Canonical Allele Identifier: CA379798320

Gene: ABCC8

Linked Data

• dbSNP Id: rs1225789185
• gnomAD v2: 11-17426164-G-A
• MyVariant Identifiers: chr11:g.17426164G>A (hg19) ; chr11:g.17404617G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17404617G>A , CM000673.2:g.17404617G>A	GRCh38
NC_000011.9:g.17426164G>A , CM000673.1:g.17426164G>A	GRCh37
NC_000011.8:g.17382740G>A	NCBI36
NG_008867.1:g.77286C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3021C>T
ENST00000528374.2:c.31C>T
ENST00000529967.6:n.1791C>T
ENST00000532220.2:n.1184C>T
ENST00000642611.2:n.3521C>T
ENST00000645004.2:n.951C>T
ENST00000682051.1:n.3468C>T
ENST00000682110.1:n.3521C>T
ENST00000682140.1:c.3449C>T	ENSP00000507829.1:p.Ser1150Leu
ENST00000682185.1:n.4757C>T
ENST00000682204.1:c.*1590C>T	ENSP00000507094.1:n.*1590C>T
ENST00000682215.1:n.3518C>T
ENST00000682288.1:c.*1883C>T	ENSP00000507506.1:n.*1883C>T
ENST00000682442.1:n.3741C>T
ENST00000682528.1:n.3598C>T
ENST00000682673.1:n.3465C>T
ENST00000682805.1:n.3518C>T
ENST00000682965.1:c.3396+877C>T	ENSP00000508229.1:n.3396+877C>T
ENST00000683093.1:n.3620C>T
ENST00000683136.1:c.3449C>T	ENSP00000507768.1:p.Ser1150Leu
ENST00000683153.1:n.3677C>T
ENST00000683365.1:n.3623C>T
ENST00000683377.1:n.3521C>T
ENST00000683456.1:c.*589C>T	ENSP00000508318.1:n.*589C>T
ENST00000683522.1:n.3521C>T
ENST00000683562.1:c.*1621C>T	ENSP00000508265.1:n.*1621C>T
ENST00000683693.1:n.3598C>T
ENST00000683725.1:c.3452C>T	ENSP00000507496.1:p.Ser1151Leu
ENST00000684010.1:n.3516C>T
ENST00000684157.1:n.3521C>T
ENST00000684253.1:n.3424C>T
ENST00000684288.1:c.*1624C>T	ENSP00000507143.1:n.*1624C>T
ENST00000684313.1:n.2953C>T
ENST00000684332.1:n.3594C>T
ENST00000684371.1:n.3627C>T
ENST00000684404.1:n.3564C>T
ENST00000684442.1:n.3521C>T
ENST00000684555.1:c.*1664C>T	ENSP00000507705.1:n.*1664C>T
ENST00000684571.1:c.3293C>T	ENSP00000506935.1:p.Ser1098Leu
ENST00000684593.1:c.*3157C>T	ENSP00000507005.1:n.*3157C>T
ENST00000684711.1:c.*1848C>T	ENSP00000506841.1:n.*1848C>T
ENST00000302539.9:c.3455C>T	ENSP00000303960.4:p.Ser1152Leu
ENST00000389817.8:c.3452C>T MANE Select	ENSP00000374467.4:p.Ser1151Leu
ENST00000642271.1:c.3449C>T	ENSP00000493749.1:p.Ser1150Leu
ENST00000642579.1:c.1536C>T
ENST00000642611.1:n.3406C>T
ENST00000642902.1:c.3234C>T
ENST00000643260.1:c.3452C>T	ENSP00000494450.1:p.Ser1151Leu
ENST00000643562.1:c.*1428C>T	ENSP00000496124.1:n.*1428C>T
ENST00000643925.1:c.1576C>T
ENST00000644447.1:c.1808C>T	ENSP00000496282.1:p.Ser603Leu
ENST00000644484.1:c.*1707C>T	ENSP00000493558.1:n.*1707C>T
ENST00000644675.1:c.*1624C>T	ENSP00000494567.1:n.*1624C>T
ENST00000644757.1:c.*1737C>T	ENSP00000495085.1:n.*1737C>T
ENST00000644772.1:c.3518C>T	ENSP00000494321.1:p.Ser1173Leu
ENST00000645004.1:n.591C>T
ENST00000645076.1:c.2651C>T
ENST00000645417.1:c.618C>T
ENST00000645744.1:c.*1716C>T	ENSP00000494564.1:n.*1716C>T
ENST00000645760.1:c.3727C>T
ENST00000645884.1:c.*589C>T	ENSP00000495516.1:n.*589C>T
ENST00000646003.1:c.*1408C>T	ENSP00000495259.1:n.*1408C>T
ENST00000646207.1:c.*1919C>T	ENSP00000495025.1:n.*1919C>T
ENST00000646276.1:c.*1725C>T	ENSP00000496070.1:n.*1725C>T
ENST00000646592.1:c.2758C>T
ENST00000646902.1:c.3449C>T	ENSP00000494101.1:p.Ser1150Leu
ENST00000646993.1:c.*1848C>T	ENSP00000493720.1:n.*1848C>T
ENST00000647013.1:c.3458C>T	ENSP00000496741.1:n.3458C>T
ENST00000647015.1:c.3203C>T	ENSP00000495389.1:p.Ser1068Leu
ENST00000647086.1:c.*3182C>T	ENSP00000493677.1:n.*3182C>T
ENST00000647158.1:c.*1593C>T	ENSP00000495744.1:n.*1593C>T
ENST00000302539.8:c.3455C>T	ENSP00000303960.4:p.Ser1152Leu
ENST00000389817.7:c.3452C>T	ENSP00000374467.3:p.Ser1151Leu
ENST00000524561.1:n.584C>T
ENST00000527905.5:c.*328C>T	ENSP00000431653.1:n.*328C>T
NM_000352.4:c.3452C>T	NP_000343.2:p.Ser1151Leu
NM_001287174.1:c.3455C>T	NP_001274103.1:p.Ser1152Leu
XM_011520331.1:c.3452C>T	XP_011518633.1:p.Ser1151Leu
XM_011520332.1:c.3455C>T	XP_011518634.1:p.Ser1152Leu
XM_011520333.1:c.1952C>T	XP_011518635.1:p.Ser651Leu
XR_930890.1:n.3518C>T
XR_930892.1:n.3418C>T
XR_930893.1:n.3415C>T
NM_001351295.1:c.3518C>T	NP_001338224.1:p.Ser1173Leu
NM_001351296.1:c.3452C>T	NP_001338225.1:p.Ser1151Leu
NM_001351297.1:c.3449C>T	NP_001338226.1:p.Ser1150Leu
NR_147094.1:n.3601C>T
XM_017018197.2:c.3521C>T	XP_016873686.1:p.Ser1174Leu
XM_017018199.1:c.3518C>T	XP_016873688.1:p.Ser1173Leu
XM_017018201.2:c.3521C>T	XP_016873690.1:p.Ser1174Leu
XM_017018202.1:c.2018C>T	XP_016873691.1:p.Ser673Leu
XM_017018204.1:c.1409C>T	XP_016873693.1:p.Ser470Leu
XM_024448668.1:c.1820C>T	XP_024304436.1:p.Ser607Leu
XR_001747945.2:n.3593C>T
XR_001747946.2:n.3524C>T
XR_002957189.1:n.3673C>T
NM_000352.6:c.3452C>T MANE Select	NP_000343.2:p.Ser1151Leu
NM_001287174.2:c.3455C>T	NP_001274103.1:p.Ser1152Leu
NM_001351295.2:c.3518C>T	NP_001338224.1:p.Ser1173Leu
NM_001351296.2:c.3452C>T	NP_001338225.1:p.Ser1151Leu
NM_001351297.2:c.3449C>T	NP_001338226.1:p.Ser1150Leu
NR_147094.2:n.3601C>T
NM_001287174.3:c.3455C>T	NP_001274103.1:p.Ser1152Leu