Canonical Allele Identifier: CA379797941

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17404572-G-A
• MyVariant Identifiers: chr11:g.17426119G>A (hg19) ; chr11:g.17404572G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404572G>A , CM000673.2:g.17404572G>A	GRCh38
NC_000011.9:g.17426119G>A , CM000673.1:g.17426119G>A	GRCh37
NC_000011.8:g.17382695G>A	NCBI36
NG_008867.1:g.77331C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.3066C>T
ENST00000528374.2:c.76C>T
ENST00000529967.6:n.1836C>T
ENST00000532220.2:n.1229C>T
ENST00000642611.2:n.3566C>T
ENST00000645004.2:n.996C>T
ENST00000682051.1:n.3513C>T
ENST00000682110.1:n.3566C>T
ENST00000682140.1:c.3494C>T	ENSP00000507829.1:p.Ala1165Val
ENST00000682185.1:n.4802C>T
ENST00000682204.1:c.*1635C>T	ENSP00000507094.1:n.*1635C>T
ENST00000682215.1:n.3563C>T
ENST00000682288.1:c.*1928C>T	ENSP00000507506.1:n.*1928C>T
ENST00000682442.1:n.3786C>T
ENST00000682528.1:n.3643C>T
ENST00000682673.1:n.3510C>T
ENST00000682805.1:n.3563C>T
ENST00000682965.1:c.3396+922C>T	ENSP00000508229.1:n.3396+922C>T
ENST00000683093.1:n.3665C>T
ENST00000683136.1:c.3494C>T	ENSP00000507768.1:p.Ala1165Val
ENST00000683153.1:n.3722C>T
ENST00000683365.1:n.3668C>T
ENST00000683377.1:n.3566C>T
ENST00000683456.1:c.*634C>T	ENSP00000508318.1:n.*634C>T
ENST00000683522.1:n.3566C>T
ENST00000683562.1:c.*1666C>T	ENSP00000508265.1:n.*1666C>T
ENST00000683693.1:n.3643C>T
ENST00000683725.1:c.3497C>T	ENSP00000507496.1:p.Ala1166Val
ENST00000684010.1:n.3561C>T
ENST00000684157.1:n.3566C>T
ENST00000684253.1:n.3469C>T
ENST00000684288.1:c.*1669C>T	ENSP00000507143.1:n.*1669C>T
ENST00000684313.1:n.2998C>T
ENST00000684332.1:n.3639C>T
ENST00000684371.1:n.3672C>T
ENST00000684404.1:n.3609C>T
ENST00000684442.1:n.3566C>T
ENST00000684555.1:c.*1709C>T	ENSP00000507705.1:n.*1709C>T
ENST00000684571.1:c.3338C>T	ENSP00000506935.1:p.Ala1113Val
ENST00000684593.1:c.*3202C>T	ENSP00000507005.1:n.*3202C>T
ENST00000684711.1:c.*1893C>T	ENSP00000506841.1:n.*1893C>T
ENST00000302539.9:c.3500C>T	ENSP00000303960.4:p.Ala1167Val
ENST00000389817.8:c.3497C>T MANE Select	ENSP00000374467.4:p.Ala1166Val
ENST00000642271.1:c.3494C>T	ENSP00000493749.1:p.Ala1165Val
ENST00000642579.1:c.1581C>T
ENST00000642611.1:n.3451C>T
ENST00000642902.1:c.3279C>T
ENST00000643260.1:c.3497C>T	ENSP00000494450.1:p.Ala1166Val
ENST00000643562.1:c.*1473C>T	ENSP00000496124.1:n.*1473C>T
ENST00000643925.1:c.1621C>T
ENST00000644447.1:c.1853C>T	ENSP00000496282.1:p.Ala618Val
ENST00000644484.1:c.*1752C>T	ENSP00000493558.1:n.*1752C>T
ENST00000644675.1:c.*1669C>T	ENSP00000494567.1:n.*1669C>T
ENST00000644757.1:c.*1782C>T	ENSP00000495085.1:n.*1782C>T
ENST00000644772.1:c.3563C>T	ENSP00000494321.1:p.Ala1188Val
ENST00000645004.1:n.636C>T
ENST00000645076.1:c.2696C>T
ENST00000645417.1:c.663C>T
ENST00000645744.1:c.*1761C>T	ENSP00000494564.1:n.*1761C>T
ENST00000645760.1:c.3772C>T
ENST00000645884.1:c.*634C>T	ENSP00000495516.1:n.*634C>T
ENST00000646003.1:c.*1453C>T	ENSP00000495259.1:n.*1453C>T
ENST00000646207.1:c.*1964C>T	ENSP00000495025.1:n.*1964C>T
ENST00000646276.1:c.*1770C>T	ENSP00000496070.1:n.*1770C>T
ENST00000646592.1:c.2803C>T
ENST00000646902.1:c.3494C>T	ENSP00000494101.1:p.Ala1165Val
ENST00000646993.1:c.*1893C>T	ENSP00000493720.1:n.*1893C>T
ENST00000647013.1:c.3503C>T	ENSP00000496741.1:n.3503C>T
ENST00000647015.1:c.3248C>T	ENSP00000495389.1:p.Ala1083Val
ENST00000647086.1:c.*3227C>T	ENSP00000493677.1:n.*3227C>T
ENST00000647158.1:c.*1638C>T	ENSP00000495744.1:n.*1638C>T
ENST00000302539.8:c.3500C>T	ENSP00000303960.4:p.Ala1167Val
ENST00000389817.7:c.3497C>T	ENSP00000374467.3:p.Ala1166Val
ENST00000524561.1:n.629C>T
ENST00000527905.5:c.*373C>T	ENSP00000431653.1:n.*373C>T
NM_000352.4:c.3497C>T	NP_000343.2:p.Ala1166Val
NM_001287174.1:c.3500C>T	NP_001274103.1:p.Ala1167Val
XM_011520331.1:c.3497C>T	XP_011518633.1:p.Ala1166Val
XM_011520332.1:c.3500C>T	XP_011518634.1:p.Ala1167Val
XM_011520333.1:c.1997C>T	XP_011518635.1:p.Ala666Val
XR_930890.1:n.3563C>T
XR_930892.1:n.3463C>T
XR_930893.1:n.3460C>T
NM_001351295.1:c.3563C>T	NP_001338224.1:p.Ala1188Val
NM_001351296.1:c.3497C>T	NP_001338225.1:p.Ala1166Val
NM_001351297.1:c.3494C>T	NP_001338226.1:p.Ala1165Val
NR_147094.1:n.3646C>T
XM_017018197.2:c.3566C>T	XP_016873686.1:p.Ala1189Val
XM_017018199.1:c.3563C>T	XP_016873688.1:p.Ala1188Val
XM_017018201.2:c.3566C>T	XP_016873690.1:p.Ala1189Val
XM_017018202.1:c.2063C>T	XP_016873691.1:p.Ala688Val
XM_017018204.1:c.1454C>T	XP_016873693.1:p.Ala485Val
XM_024448668.1:c.1865C>T	XP_024304436.1:p.Ala622Val
XR_001747945.2:n.3638C>T
XR_001747946.2:n.3569C>T
XR_002957189.1:n.3718C>T
NM_000352.6:c.3497C>T MANE Select	NP_000343.2:p.Ala1166Val
NM_001287174.2:c.3500C>T	NP_001274103.1:p.Ala1167Val
NM_001351295.2:c.3563C>T	NP_001338224.1:p.Ala1188Val
NM_001351296.2:c.3497C>T	NP_001338225.1:p.Ala1166Val
NM_001351297.2:c.3494C>T	NP_001338226.1:p.Ala1165Val
NR_147094.2:n.3646C>T
NM_001287174.3:c.3500C>T	NP_001274103.1:p.Ala1167Val