Canonical Allele Identifier: CA5902819

Gene: ABCC8

Linked Data

• dbSNP Id: rs374377231
• ExAC: 11:17426238 G / C
• gnomAD v2: 11-17426238-G-C
• gnomAD v3: 11-17404691-G-C
• gnomAD v4: 11-17404691-G-C
• MyVariant Identifiers: chr11:g.17426238G>C (hg19) ; chr11:g.17404691G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404691G>C , CM000673.2:g.17404691G>C	GRCh38
NC_000011.9:g.17426238G>C , CM000673.1:g.17426238G>C	GRCh37
NC_000011.8:g.17382814G>C	NCBI36
NG_008867.1:g.77212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.2969-22C>G
ENST00000529967.6:n.1739-22C>G
ENST00000532220.2:n.1132-22C>G
ENST00000642611.2:n.3469-22C>G
ENST00000645004.2:n.899-22C>G
ENST00000682051.1:n.3416-22C>G
ENST00000682110.1:n.3469-22C>G
ENST00000682140.1:c.3397-22C>G	ENSP00000507829.1:n.3397-22C>G
ENST00000682185.1:n.4705-22C>G
ENST00000682204.1:c.*1538-22C>G	ENSP00000507094.1:n.*1538-22C>G
ENST00000682215.1:n.3466-22C>G
ENST00000682288.1:c.*1831-22C>G	ENSP00000507506.1:n.*1831-22C>G
ENST00000682442.1:n.3689-22C>G
ENST00000682528.1:n.3546-22C>G
ENST00000682673.1:n.3413-22C>G
ENST00000682805.1:n.3466-22C>G
ENST00000682965.1:c.3396+803C>G	ENSP00000508229.1:n.3396+803C>G
ENST00000683093.1:n.3568-22C>G
ENST00000683136.1:c.3397-22C>G	ENSP00000507768.1:n.3397-22C>G
ENST00000683153.1:n.3625-22C>G
ENST00000683365.1:n.3571-22C>G
ENST00000683377.1:n.3469-22C>G
ENST00000683456.1:c.*537-22C>G	ENSP00000508318.1:n.*537-22C>G
ENST00000683522.1:n.3469-22C>G
ENST00000683562.1:c.*1569-22C>G	ENSP00000508265.1:n.*1569-22C>G
ENST00000683693.1:n.3546-22C>G
ENST00000683725.1:c.3400-22C>G	ENSP00000507496.1:n.3400-22C>G
ENST00000684010.1:n.3464-22C>G
ENST00000684157.1:n.3469-22C>G
ENST00000684253.1:n.3372-22C>G
ENST00000684288.1:c.*1572-22C>G	ENSP00000507143.1:n.*1572-22C>G
ENST00000684313.1:n.2901-22C>G
ENST00000684332.1:n.3542-22C>G
ENST00000684371.1:n.3575-22C>G
ENST00000684404.1:n.3512-22C>G
ENST00000684442.1:n.3469-22C>G
ENST00000684555.1:c.*1612-22C>G	ENSP00000507705.1:n.*1612-22C>G
ENST00000684571.1:c.3241-22C>G	ENSP00000506935.1:n.3241-22C>G
ENST00000684593.1:c.*3105-22C>G	ENSP00000507005.1:n.*3105-22C>G
ENST00000684711.1:c.*1796-22C>G	ENSP00000506841.1:n.*1796-22C>G
ENST00000302539.9:c.3403-22C>G	ENSP00000303960.4:n.3403-22C>G
ENST00000389817.8:c.3400-22C>G MANE Select	ENSP00000374467.4:n.3400-22C>G
ENST00000642271.1:c.3397-22C>G	ENSP00000493749.1:n.3397-22C>G
ENST00000642579.1:c.1484-22C>G
ENST00000642611.1:n.3354-22C>G
ENST00000642902.1:c.3182-22C>G
ENST00000643260.1:c.3400-22C>G	ENSP00000494450.1:n.3400-22C>G
ENST00000643562.1:c.*1376-22C>G	ENSP00000496124.1:n.*1376-22C>G
ENST00000643925.1:c.1524-22C>G
ENST00000644447.1:c.1756-22C>G	ENSP00000496282.1:n.1756-22C>G
ENST00000644484.1:c.*1655-22C>G	ENSP00000493558.1:n.*1655-22C>G
ENST00000644675.1:c.*1572-22C>G	ENSP00000494567.1:n.*1572-22C>G
ENST00000644757.1:c.*1685-22C>G	ENSP00000495085.1:n.*1685-22C>G
ENST00000644772.1:c.3466-22C>G	ENSP00000494321.1:n.3466-22C>G
ENST00000645004.1:n.539-22C>G
ENST00000645076.1:c.2599-22C>G
ENST00000645417.1:c.566-22C>G
ENST00000645744.1:c.*1664-22C>G	ENSP00000494564.1:n.*1664-22C>G
ENST00000645760.1:c.3675-22C>G
ENST00000645884.1:c.*537-22C>G	ENSP00000495516.1:n.*537-22C>G
ENST00000646003.1:c.*1356-22C>G	ENSP00000495259.1:n.*1356-22C>G
ENST00000646207.1:c.*1867-22C>G	ENSP00000495025.1:n.*1867-22C>G
ENST00000646276.1:c.*1673-22C>G	ENSP00000496070.1:n.*1673-22C>G
ENST00000646592.1:c.2706-22C>G
ENST00000646902.1:c.3397-22C>G	ENSP00000494101.1:n.3397-22C>G
ENST00000646993.1:c.*1796-22C>G	ENSP00000493720.1:n.*1796-22C>G
ENST00000647013.1:c.3406-22C>G	ENSP00000496741.1:n.3406-22C>G
ENST00000647015.1:c.3151-22C>G	ENSP00000495389.1:n.3151-22C>G
ENST00000647086.1:c.*3130-22C>G	ENSP00000493677.1:n.*3130-22C>G
ENST00000647158.1:c.*1541-22C>G	ENSP00000495744.1:n.*1541-22C>G
ENST00000302539.8:c.3403-22C>G	ENSP00000303960.4:n.3403-22C>G
ENST00000389817.7:c.3400-22C>G	ENSP00000374467.3:n.3400-22C>G
ENST00000524561.1:n.532-22C>G
ENST00000527905.5:c.*276-22C>G	ENSP00000431653.1:n.*276-22C>G
NM_000352.4:c.3400-22C>G	NP_000343.2:n.3400-22C>G
NM_001287174.1:c.3403-22C>G	NP_001274103.1:n.3403-22C>G
XM_011520331.1:c.3400-22C>G	XP_011518633.1:n.3400-22C>G
XM_011520332.1:c.3403-22C>G	XP_011518634.1:n.3403-22C>G
XM_011520333.1:c.1900-22C>G	XP_011518635.1:n.1900-22C>G
XR_930890.1:n.3466-22C>G
XR_930891.1:n.3467-22C>G
XR_930892.1:n.3366-22C>G
XR_930893.1:n.3363-22C>G
NM_001351295.1:c.3466-22C>G	NP_001338224.1:n.3466-22C>G
NM_001351296.1:c.3400-22C>G	NP_001338225.1:n.3400-22C>G
NM_001351297.1:c.3397-22C>G	NP_001338226.1:n.3397-22C>G
NR_147094.1:n.3549-22C>G
XM_017018197.2:c.3469-22C>G	XP_016873686.1:n.3469-22C>G
XM_017018199.1:c.3466-22C>G	XP_016873688.1:n.3466-22C>G
XM_017018201.2:c.3469-22C>G	XP_016873690.1:n.3469-22C>G
XM_017018202.1:c.1966-22C>G	XP_016873691.1:n.1966-22C>G
XM_017018204.1:c.1357-22C>G	XP_016873693.1:n.1357-22C>G
XM_024448668.1:c.1768-22C>G	XP_024304436.1:n.1768-22C>G
XR_001747945.2:n.3541-22C>G
XR_001747946.2:n.3472-22C>G
XR_002957189.1:n.3621-22C>G
NM_000352.6:c.3400-22C>G MANE Select	NP_000343.2:n.3400-22C>G
NM_001287174.2:c.3403-22C>G	NP_001274103.1:n.3403-22C>G
NM_001351295.2:c.3466-22C>G	NP_001338224.1:n.3466-22C>G
NM_001351296.2:c.3400-22C>G	NP_001338225.1:n.3400-22C>G
NM_001351297.2:c.3397-22C>G	NP_001338226.1:n.3397-22C>G
NR_147094.2:n.3549-22C>G
NM_001287174.3:c.3403-22C>G	NP_001274103.1:n.3403-22C>G