Canonical Allele Identifier: CA473299683

Gene: ABCC8

Linked Data

• dbSNP Id: rs1438866265
• gnomAD v3: 11-17404601-G-A
• gnomAD v4: 11-17404601-G-A
• MyVariant Identifiers: chr11:g.17426148G>A (hg19) ; chr11:g.17404601G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404601G>A , CM000673.2:g.17404601G>A	GRCh38
NC_000011.9:g.17426148G>A , CM000673.1:g.17426148G>A	GRCh37
NC_000011.8:g.17382724G>A	NCBI36
NG_008867.1:g.77302C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3037C>T
ENST00000528374.2:c.47C>T
ENST00000529967.6:n.1807C>T
ENST00000532220.2:n.1200C>T
ENST00000642611.2:n.3537C>T
ENST00000645004.2:n.967C>T
ENST00000682051.1:n.3484C>T
ENST00000682110.1:n.3537C>T
ENST00000682140.1:c.3465C>T	ENSP00000507829.1:p.Ile1155=
ENST00000682185.1:n.4773C>T
ENST00000682204.1:c.*1606C>T	ENSP00000507094.1:n.*1606C>T
ENST00000682215.1:n.3534C>T
ENST00000682288.1:c.*1899C>T	ENSP00000507506.1:n.*1899C>T
ENST00000682442.1:n.3757C>T
ENST00000682528.1:n.3614C>T
ENST00000682673.1:n.3481C>T
ENST00000682805.1:n.3534C>T
ENST00000682965.1:c.3396+893C>T	ENSP00000508229.1:n.3396+893C>T
ENST00000683093.1:n.3636C>T
ENST00000683136.1:c.3465C>T	ENSP00000507768.1:p.Ile1155=
ENST00000683153.1:n.3693C>T
ENST00000683365.1:n.3639C>T
ENST00000683377.1:n.3537C>T
ENST00000683456.1:c.*605C>T	ENSP00000508318.1:n.*605C>T
ENST00000683522.1:n.3537C>T
ENST00000683562.1:c.*1637C>T	ENSP00000508265.1:n.*1637C>T
ENST00000683693.1:n.3614C>T
ENST00000683725.1:c.3468C>T	ENSP00000507496.1:p.Ile1156=
ENST00000684010.1:n.3532C>T
ENST00000684157.1:n.3537C>T
ENST00000684253.1:n.3440C>T
ENST00000684288.1:c.*1640C>T	ENSP00000507143.1:n.*1640C>T
ENST00000684313.1:n.2969C>T
ENST00000684332.1:n.3610C>T
ENST00000684371.1:n.3643C>T
ENST00000684404.1:n.3580C>T
ENST00000684442.1:n.3537C>T
ENST00000684555.1:c.*1680C>T	ENSP00000507705.1:n.*1680C>T
ENST00000684571.1:c.3309C>T	ENSP00000506935.1:p.Ile1103=
ENST00000684593.1:c.*3173C>T	ENSP00000507005.1:n.*3173C>T
ENST00000684711.1:c.*1864C>T	ENSP00000506841.1:n.*1864C>T
ENST00000302539.9:c.3471C>T	ENSP00000303960.4:p.Ile1157=
ENST00000389817.8:c.3468C>T MANE Select	ENSP00000374467.4:p.Ile1156=
ENST00000642271.1:c.3465C>T	ENSP00000493749.1:p.Ile1155=
ENST00000642579.1:c.1552C>T
ENST00000642611.1:n.3422C>T
ENST00000642902.1:c.3250C>T
ENST00000643260.1:c.3468C>T	ENSP00000494450.1:p.Ile1156=
ENST00000643562.1:c.*1444C>T	ENSP00000496124.1:n.*1444C>T
ENST00000643925.1:c.1592C>T
ENST00000644447.1:c.1824C>T	ENSP00000496282.1:p.Ile608=
ENST00000644484.1:c.*1723C>T	ENSP00000493558.1:n.*1723C>T
ENST00000644675.1:c.*1640C>T	ENSP00000494567.1:n.*1640C>T
ENST00000644757.1:c.*1753C>T	ENSP00000495085.1:n.*1753C>T
ENST00000644772.1:c.3534C>T	ENSP00000494321.1:p.Ile1178=
ENST00000645004.1:n.607C>T
ENST00000645076.1:c.2667C>T
ENST00000645417.1:c.634C>T
ENST00000645744.1:c.*1732C>T	ENSP00000494564.1:n.*1732C>T
ENST00000645760.1:c.3743C>T
ENST00000645884.1:c.*605C>T	ENSP00000495516.1:n.*605C>T
ENST00000646003.1:c.*1424C>T	ENSP00000495259.1:n.*1424C>T
ENST00000646207.1:c.*1935C>T	ENSP00000495025.1:n.*1935C>T
ENST00000646276.1:c.*1741C>T	ENSP00000496070.1:n.*1741C>T
ENST00000646592.1:c.2774C>T
ENST00000646902.1:c.3465C>T	ENSP00000494101.1:p.Ile1155=
ENST00000646993.1:c.*1864C>T	ENSP00000493720.1:n.*1864C>T
ENST00000647013.1:c.3474C>T	ENSP00000496741.1:n.3474C>T
ENST00000647015.1:c.3219C>T	ENSP00000495389.1:p.Ile1073=
ENST00000647086.1:c.*3198C>T	ENSP00000493677.1:n.*3198C>T
ENST00000647158.1:c.*1609C>T	ENSP00000495744.1:n.*1609C>T
ENST00000302539.8:c.3471C>T	ENSP00000303960.4:p.Ile1157=
ENST00000389817.7:c.3468C>T	ENSP00000374467.3:p.Ile1156=
ENST00000524561.1:n.600C>T
ENST00000527905.5:c.*344C>T	ENSP00000431653.1:n.*344C>T
NM_000352.4:c.3468C>T	NP_000343.2:p.Ile1156=
NM_001287174.1:c.3471C>T	NP_001274103.1:p.Ile1157=
XM_011520331.1:c.3468C>T	XP_011518633.1:p.Ile1156=
XM_011520332.1:c.3471C>T	XP_011518634.1:p.Ile1157=
XM_011520333.1:c.1968C>T	XP_011518635.1:p.Ile656=
XR_930890.1:n.3534C>T
XR_930892.1:n.3434C>T
XR_930893.1:n.3431C>T
NM_001351295.1:c.3534C>T	NP_001338224.1:p.Ile1178=
NM_001351296.1:c.3468C>T	NP_001338225.1:p.Ile1156=
NM_001351297.1:c.3465C>T	NP_001338226.1:p.Ile1155=
NR_147094.1:n.3617C>T
XM_017018197.2:c.3537C>T	XP_016873686.1:p.Ile1179=
XM_017018199.1:c.3534C>T	XP_016873688.1:p.Ile1178=
XM_017018201.2:c.3537C>T	XP_016873690.1:p.Ile1179=
XM_017018202.1:c.2034C>T	XP_016873691.1:p.Ile678=
XM_017018204.1:c.1425C>T	XP_016873693.1:p.Ile475=
XM_024448668.1:c.1836C>T	XP_024304436.1:p.Ile612=
XR_001747945.2:n.3609C>T
XR_001747946.2:n.3540C>T
XR_002957189.1:n.3689C>T
NM_000352.6:c.3468C>T MANE Select	NP_000343.2:p.Ile1156=
NM_001287174.2:c.3471C>T	NP_001274103.1:p.Ile1157=
NM_001351295.2:c.3534C>T	NP_001338224.1:p.Ile1178=
NM_001351296.2:c.3468C>T	NP_001338225.1:p.Ile1156=
NM_001351297.2:c.3465C>T	NP_001338226.1:p.Ile1155=
NR_147094.2:n.3617C>T
NM_001287174.3:c.3471C>T	NP_001274103.1:p.Ile1157=