Canonical Allele Identifier: CA379797934

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17404570-G-A
• MyVariant Identifiers: chr11:g.17426117G>A (hg19) ; chr11:g.17404570G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404570G>A , CM000673.2:g.17404570G>A	GRCh38
NC_000011.9:g.17426117G>A , CM000673.1:g.17426117G>A	GRCh37
NC_000011.8:g.17382693G>A	NCBI36
NG_008867.1:g.77333C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3068C>T
ENST00000528374.2:c.78C>T
ENST00000529967.6:n.1838C>T
ENST00000532220.2:n.1231C>T
ENST00000642611.2:n.3568C>T
ENST00000645004.2:n.998C>T
ENST00000682051.1:n.3515C>T
ENST00000682110.1:n.3568C>T
ENST00000682140.1:c.3496C>T	ENSP00000507829.1:p.Leu1166Phe
ENST00000682185.1:n.4804C>T
ENST00000682204.1:c.*1637C>T	ENSP00000507094.1:n.*1637C>T
ENST00000682215.1:n.3565C>T
ENST00000682288.1:c.*1930C>T	ENSP00000507506.1:n.*1930C>T
ENST00000682442.1:n.3788C>T
ENST00000682528.1:n.3645C>T
ENST00000682673.1:n.3512C>T
ENST00000682805.1:n.3565C>T
ENST00000682965.1:c.3396+924C>T	ENSP00000508229.1:n.3396+924C>T
ENST00000683093.1:n.3667C>T
ENST00000683136.1:c.3496C>T	ENSP00000507768.1:p.Leu1166Phe
ENST00000683153.1:n.3724C>T
ENST00000683365.1:n.3670C>T
ENST00000683377.1:n.3568C>T
ENST00000683456.1:c.*636C>T	ENSP00000508318.1:n.*636C>T
ENST00000683522.1:n.3568C>T
ENST00000683562.1:c.*1668C>T	ENSP00000508265.1:n.*1668C>T
ENST00000683693.1:n.3645C>T
ENST00000683725.1:c.3499C>T	ENSP00000507496.1:p.Leu1167Phe
ENST00000684010.1:n.3563C>T
ENST00000684157.1:n.3568C>T
ENST00000684253.1:n.3471C>T
ENST00000684288.1:c.*1671C>T	ENSP00000507143.1:n.*1671C>T
ENST00000684313.1:n.3000C>T
ENST00000684332.1:n.3641C>T
ENST00000684371.1:n.3674C>T
ENST00000684404.1:n.3611C>T
ENST00000684442.1:n.3568C>T
ENST00000684555.1:c.*1711C>T	ENSP00000507705.1:n.*1711C>T
ENST00000684571.1:c.3340C>T	ENSP00000506935.1:p.Leu1114Phe
ENST00000684593.1:c.*3204C>T	ENSP00000507005.1:n.*3204C>T
ENST00000684711.1:c.*1895C>T	ENSP00000506841.1:n.*1895C>T
ENST00000302539.9:c.3502C>T	ENSP00000303960.4:p.Leu1168Phe
ENST00000389817.8:c.3499C>T MANE Select	ENSP00000374467.4:p.Leu1167Phe
ENST00000642271.1:c.3496C>T	ENSP00000493749.1:p.Leu1166Phe
ENST00000642579.1:c.1583C>T
ENST00000642611.1:n.3453C>T
ENST00000642902.1:c.3281C>T
ENST00000643260.1:c.3499C>T	ENSP00000494450.1:p.Leu1167Phe
ENST00000643562.1:c.*1475C>T	ENSP00000496124.1:n.*1475C>T
ENST00000643925.1:c.1623C>T
ENST00000644447.1:c.1855C>T	ENSP00000496282.1:p.Leu619Phe
ENST00000644484.1:c.*1754C>T	ENSP00000493558.1:n.*1754C>T
ENST00000644675.1:c.*1671C>T	ENSP00000494567.1:n.*1671C>T
ENST00000644757.1:c.*1784C>T	ENSP00000495085.1:n.*1784C>T
ENST00000644772.1:c.3565C>T	ENSP00000494321.1:p.Leu1189Phe
ENST00000645004.1:n.638C>T
ENST00000645076.1:c.2698C>T
ENST00000645417.1:c.665C>T
ENST00000645744.1:c.*1763C>T	ENSP00000494564.1:n.*1763C>T
ENST00000645760.1:c.3774C>T
ENST00000645884.1:c.*636C>T	ENSP00000495516.1:n.*636C>T
ENST00000646003.1:c.*1455C>T	ENSP00000495259.1:n.*1455C>T
ENST00000646207.1:c.*1966C>T	ENSP00000495025.1:n.*1966C>T
ENST00000646276.1:c.*1772C>T	ENSP00000496070.1:n.*1772C>T
ENST00000646592.1:c.2805C>T
ENST00000646902.1:c.3496C>T	ENSP00000494101.1:p.Leu1166Phe
ENST00000646993.1:c.*1895C>T	ENSP00000493720.1:n.*1895C>T
ENST00000647013.1:c.3505C>T	ENSP00000496741.1:n.3505C>T
ENST00000647015.1:c.3250C>T	ENSP00000495389.1:p.Leu1084Phe
ENST00000647086.1:c.*3229C>T	ENSP00000493677.1:n.*3229C>T
ENST00000647158.1:c.*1640C>T	ENSP00000495744.1:n.*1640C>T
ENST00000302539.8:c.3502C>T	ENSP00000303960.4:p.Leu1168Phe
ENST00000389817.7:c.3499C>T	ENSP00000374467.3:p.Leu1167Phe
ENST00000524561.1:n.631C>T
ENST00000527905.5:c.*375C>T	ENSP00000431653.1:n.*375C>T
NM_000352.4:c.3499C>T	NP_000343.2:p.Leu1167Phe
NM_001287174.1:c.3502C>T	NP_001274103.1:p.Leu1168Phe
XM_011520331.1:c.3499C>T	XP_011518633.1:p.Leu1167Phe
XM_011520332.1:c.3502C>T	XP_011518634.1:p.Leu1168Phe
XM_011520333.1:c.1999C>T	XP_011518635.1:p.Leu667Phe
XR_930890.1:n.3565C>T
XR_930892.1:n.3465C>T
XR_930893.1:n.3462C>T
NM_001351295.1:c.3565C>T	NP_001338224.1:p.Leu1189Phe
NM_001351296.1:c.3499C>T	NP_001338225.1:p.Leu1167Phe
NM_001351297.1:c.3496C>T	NP_001338226.1:p.Leu1166Phe
NR_147094.1:n.3648C>T
XM_017018197.2:c.3568C>T	XP_016873686.1:p.Leu1190Phe
XM_017018199.1:c.3565C>T	XP_016873688.1:p.Leu1189Phe
XM_017018201.2:c.3568C>T	XP_016873690.1:p.Leu1190Phe
XM_017018202.1:c.2065C>T	XP_016873691.1:p.Leu689Phe
XM_017018204.1:c.1456C>T	XP_016873693.1:p.Leu486Phe
XM_024448668.1:c.1867C>T	XP_024304436.1:p.Leu623Phe
XR_001747945.2:n.3640C>T
XR_001747946.2:n.3571C>T
XR_002957189.1:n.3720C>T
NM_000352.6:c.3499C>T MANE Select	NP_000343.2:p.Leu1167Phe
NM_001287174.2:c.3502C>T	NP_001274103.1:p.Leu1168Phe
NM_001351295.2:c.3565C>T	NP_001338224.1:p.Leu1189Phe
NM_001351296.2:c.3499C>T	NP_001338225.1:p.Leu1167Phe
NM_001351297.2:c.3496C>T	NP_001338226.1:p.Leu1166Phe
NR_147094.2:n.3648C>T
NM_001287174.3:c.3502C>T	NP_001274103.1:p.Leu1168Phe