Canonical Allele Identifier: CA379798136

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17404596-T-G
• MyVariant Identifiers: chr11:g.17426143T>G (hg19) ; chr11:g.17404596T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404596T>G , CM000673.2:g.17404596T>G	GRCh38
NC_000011.9:g.17426143T>G , CM000673.1:g.17426143T>G	GRCh37
NC_000011.8:g.17382719T>G	NCBI36
NG_008867.1:g.77307A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3042A>C
ENST00000528374.2:c.52A>C
ENST00000529967.6:n.1812A>C
ENST00000532220.2:n.1205A>C
ENST00000642611.2:n.3542A>C
ENST00000645004.2:n.972A>C
ENST00000682051.1:n.3489A>C
ENST00000682110.1:n.3542A>C
ENST00000682140.1:c.3470A>C	ENSP00000507829.1:p.Tyr1157Ser
ENST00000682185.1:n.4778A>C
ENST00000682204.1:c.*1611A>C	ENSP00000507094.1:n.*1611A>C
ENST00000682215.1:n.3539A>C
ENST00000682288.1:c.*1904A>C	ENSP00000507506.1:n.*1904A>C
ENST00000682442.1:n.3762A>C
ENST00000682528.1:n.3619A>C
ENST00000682673.1:n.3486A>C
ENST00000682805.1:n.3539A>C
ENST00000682965.1:c.3396+898A>C	ENSP00000508229.1:n.3396+898A>C
ENST00000683093.1:n.3641A>C
ENST00000683136.1:c.3470A>C	ENSP00000507768.1:p.Tyr1157Ser
ENST00000683153.1:n.3698A>C
ENST00000683365.1:n.3644A>C
ENST00000683377.1:n.3542A>C
ENST00000683456.1:c.*610A>C	ENSP00000508318.1:n.*610A>C
ENST00000683522.1:n.3542A>C
ENST00000683562.1:c.*1642A>C	ENSP00000508265.1:n.*1642A>C
ENST00000683693.1:n.3619A>C
ENST00000683725.1:c.3473A>C	ENSP00000507496.1:p.Tyr1158Ser
ENST00000684010.1:n.3537A>C
ENST00000684157.1:n.3542A>C
ENST00000684253.1:n.3445A>C
ENST00000684288.1:c.*1645A>C	ENSP00000507143.1:n.*1645A>C
ENST00000684313.1:n.2974A>C
ENST00000684332.1:n.3615A>C
ENST00000684371.1:n.3648A>C
ENST00000684404.1:n.3585A>C
ENST00000684442.1:n.3542A>C
ENST00000684555.1:c.*1685A>C	ENSP00000507705.1:n.*1685A>C
ENST00000684571.1:c.3314A>C	ENSP00000506935.1:p.Tyr1105Ser
ENST00000684593.1:c.*3178A>C	ENSP00000507005.1:n.*3178A>C
ENST00000684711.1:c.*1869A>C	ENSP00000506841.1:n.*1869A>C
ENST00000302539.9:c.3476A>C	ENSP00000303960.4:p.Tyr1159Ser
ENST00000389817.8:c.3473A>C MANE Select	ENSP00000374467.4:p.Tyr1158Ser
ENST00000642271.1:c.3470A>C	ENSP00000493749.1:p.Tyr1157Ser
ENST00000642579.1:c.1557A>C
ENST00000642611.1:n.3427A>C
ENST00000642902.1:c.3255A>C
ENST00000643260.1:c.3473A>C	ENSP00000494450.1:p.Tyr1158Ser
ENST00000643562.1:c.*1449A>C	ENSP00000496124.1:n.*1449A>C
ENST00000643925.1:c.1597A>C
ENST00000644447.1:c.1829A>C	ENSP00000496282.1:p.Tyr610Ser
ENST00000644484.1:c.*1728A>C	ENSP00000493558.1:n.*1728A>C
ENST00000644675.1:c.*1645A>C	ENSP00000494567.1:n.*1645A>C
ENST00000644757.1:c.*1758A>C	ENSP00000495085.1:n.*1758A>C
ENST00000644772.1:c.3539A>C	ENSP00000494321.1:p.Tyr1180Ser
ENST00000645004.1:n.612A>C
ENST00000645076.1:c.2672A>C
ENST00000645417.1:c.639A>C
ENST00000645744.1:c.*1737A>C	ENSP00000494564.1:n.*1737A>C
ENST00000645760.1:c.3748A>C
ENST00000645884.1:c.*610A>C	ENSP00000495516.1:n.*610A>C
ENST00000646003.1:c.*1429A>C	ENSP00000495259.1:n.*1429A>C
ENST00000646207.1:c.*1940A>C	ENSP00000495025.1:n.*1940A>C
ENST00000646276.1:c.*1746A>C	ENSP00000496070.1:n.*1746A>C
ENST00000646592.1:c.2779A>C
ENST00000646902.1:c.3470A>C	ENSP00000494101.1:p.Tyr1157Ser
ENST00000646993.1:c.*1869A>C	ENSP00000493720.1:n.*1869A>C
ENST00000647013.1:c.3479A>C	ENSP00000496741.1:n.3479A>C
ENST00000647015.1:c.3224A>C	ENSP00000495389.1:p.Tyr1075Ser
ENST00000647086.1:c.*3203A>C	ENSP00000493677.1:n.*3203A>C
ENST00000647158.1:c.*1614A>C	ENSP00000495744.1:n.*1614A>C
ENST00000302539.8:c.3476A>C	ENSP00000303960.4:p.Tyr1159Ser
ENST00000389817.7:c.3473A>C	ENSP00000374467.3:p.Tyr1158Ser
ENST00000524561.1:n.605A>C
ENST00000527905.5:c.*349A>C	ENSP00000431653.1:n.*349A>C
NM_000352.4:c.3473A>C	NP_000343.2:p.Tyr1158Ser
NM_001287174.1:c.3476A>C	NP_001274103.1:p.Tyr1159Ser
XM_011520331.1:c.3473A>C	XP_011518633.1:p.Tyr1158Ser
XM_011520332.1:c.3476A>C	XP_011518634.1:p.Tyr1159Ser
XM_011520333.1:c.1973A>C	XP_011518635.1:p.Tyr658Ser
XR_930890.1:n.3539A>C
XR_930892.1:n.3439A>C
XR_930893.1:n.3436A>C
NM_001351295.1:c.3539A>C	NP_001338224.1:p.Tyr1180Ser
NM_001351296.1:c.3473A>C	NP_001338225.1:p.Tyr1158Ser
NM_001351297.1:c.3470A>C	NP_001338226.1:p.Tyr1157Ser
NR_147094.1:n.3622A>C
XM_017018197.2:c.3542A>C	XP_016873686.1:p.Tyr1181Ser
XM_017018199.1:c.3539A>C	XP_016873688.1:p.Tyr1180Ser
XM_017018201.2:c.3542A>C	XP_016873690.1:p.Tyr1181Ser
XM_017018202.1:c.2039A>C	XP_016873691.1:p.Tyr680Ser
XM_017018204.1:c.1430A>C	XP_016873693.1:p.Tyr477Ser
XM_024448668.1:c.1841A>C	XP_024304436.1:p.Tyr614Ser
XR_001747945.2:n.3614A>C
XR_001747946.2:n.3545A>C
XR_002957189.1:n.3694A>C
NM_000352.6:c.3473A>C MANE Select	NP_000343.2:p.Tyr1158Ser
NM_001287174.2:c.3476A>C	NP_001274103.1:p.Tyr1159Ser
NM_001351295.2:c.3539A>C	NP_001338224.1:p.Tyr1180Ser
NM_001351296.2:c.3473A>C	NP_001338225.1:p.Tyr1158Ser
NM_001351297.2:c.3470A>C	NP_001338226.1:p.Tyr1157Ser
NR_147094.2:n.3622A>C
NM_001287174.3:c.3476A>C	NP_001274103.1:p.Tyr1159Ser