Canonical Allele Identifier: CA218406301

Gene: ABCC8

Linked Data

• dbSNP Id: rs372236185
• gnomAD v2: 11-17415260-G-A
• gnomAD v3: 11-17393713-G-A
• gnomAD v4: 11-17393713-G-A
• MyVariant Identifiers: chr11:g.17415260G>A (hg19) ; chr11:g.17393713G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393713G>A , CM000673.2:g.17393713G>A	GRCh38
NC_000011.9:g.17415260G>A , CM000673.1:g.17415260G>A	GRCh37
NC_000011.8:g.17371836G>A	NCBI36
NG_008867.1:g.88190C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4193C>T
ENST00000526037.6:n.527C>T
ENST00000528374.2:c.1183C>T
ENST00000529967.6:n.2931C>T
ENST00000532220.2:n.3825C>T
ENST00000642611.2:n.5925C>T
ENST00000644057.2:n.1168C>T
ENST00000645004.2:n.2091C>T
ENST00000682051.1:n.4754C>T
ENST00000682110.1:n.4807C>T
ENST00000682140.1:c.*378C>T	ENSP00000507829.1:n.*378C>T
ENST00000682185.1:n.5897C>T
ENST00000682204.1:c.*2730C>T	ENSP00000507094.1:n.*2730C>T
ENST00000682215.1:n.5174C>T
ENST00000682288.1:c.*3023C>T	ENSP00000507506.1:n.*3023C>T
ENST00000682442.1:n.5027C>T
ENST00000682528.1:n.4884C>T
ENST00000682673.1:n.4751C>T
ENST00000682805.1:n.5212C>T
ENST00000682965.1:c.*1014C>T	ENSP00000508229.1:n.*1014C>T
ENST00000683093.1:n.5787C>T
ENST00000683136.1:c.4475C>T	ENSP00000507768.1:p.Thr1492Ile
ENST00000683153.1:n.4849C>T
ENST00000683365.1:n.4909C>T
ENST00000683377.1:n.4703C>T
ENST00000683456.1:c.*1729C>T	ENSP00000508318.1:n.*1729C>T
ENST00000683522.1:n.4889C>T
ENST00000683562.1:c.*2657C>T	ENSP00000508265.1:n.*2657C>T
ENST00000683693.1:n.6268C>T
ENST00000683725.1:c.*57C>T	ENSP00000507496.1:n.*57C>T
ENST00000684010.1:n.4802C>T
ENST00000684014.1:n.779C>T
ENST00000684157.1:n.5792C>T
ENST00000684253.1:n.4710C>T
ENST00000684288.1:c.*2764C>T	ENSP00000507143.1:n.*2764C>T
ENST00000684313.1:n.4239C>T
ENST00000684332.1:n.4880C>T
ENST00000684371.1:n.4913C>T
ENST00000684404.1:n.5835C>T
ENST00000684442.1:n.5031C>T
ENST00000684555.1:c.*2804C>T	ENSP00000507705.1:n.*2804C>T
ENST00000684571.1:c.4433C>T	ENSP00000506935.1:p.Thr1478Ile
ENST00000684593.1:c.*4297C>T	ENSP00000507005.1:n.*4297C>T
ENST00000684711.1:c.*2988C>T	ENSP00000506841.1:n.*2988C>T
ENST00000302539.9:c.4595C>T	ENSP00000303960.4:p.Thr1532Ile
ENST00000389817.8:c.4592C>T MANE Select	ENSP00000374467.4:p.Thr1531Ile
ENST00000642271.1:c.4589C>T	ENSP00000493749.1:p.Thr1530Ile
ENST00000642579.1:c.2646C>T
ENST00000642611.1:n.5810C>T
ENST00000642902.1:c.4374C>T
ENST00000643260.1:c.4592C>T	ENSP00000494450.1:p.Thr1531Ile
ENST00000643562.1:c.*2714C>T	ENSP00000496124.1:n.*2714C>T
ENST00000643925.1:c.3185+553C>T
ENST00000644057.1:n.751C>T
ENST00000644484.1:c.*3978C>T	ENSP00000493558.1:n.*3978C>T
ENST00000644675.1:c.*2764C>T	ENSP00000494567.1:n.*2764C>T
ENST00000644757.1:c.*3203-733C>T	ENSP00000495085.1:n.*3203-733C>T
ENST00000644772.1:c.4658C>T	ENSP00000494321.1:p.Thr1553Ile
ENST00000645004.1:n.2285C>T
ENST00000645076.1:c.3687C>T
ENST00000645417.1:c.1780C>T
ENST00000645744.1:c.*4277C>T	ENSP00000494564.1:n.*4277C>T
ENST00000645760.1:c.5013C>T
ENST00000645884.1:c.*1875C>T	ENSP00000495516.1:n.*1875C>T
ENST00000646003.1:c.*2614C>T	ENSP00000495259.1:n.*2614C>T
ENST00000646207.1:c.*3429C>T	ENSP00000495025.1:n.*3429C>T
ENST00000646276.1:c.*3996C>T	ENSP00000496070.1:n.*3996C>T
ENST00000646592.1:c.3898C>T
ENST00000646902.1:c.4559C>T	ENSP00000494101.1:p.Thr1520Ile
ENST00000646993.1:c.*3030C>T	ENSP00000493720.1:n.*3030C>T
ENST00000647015.1:c.4343C>T	ENSP00000495389.1:p.Thr1448Ile
ENST00000647086.1:c.*4178C>T	ENSP00000493677.1:n.*4178C>T
ENST00000647158.1:c.*2879C>T	ENSP00000495744.1:n.*2879C>T
ENST00000302539.8:c.4595C>T	ENSP00000303960.4:p.Thr1532Ile
ENST00000389817.7:c.4592C>T	ENSP00000374467.3:p.Thr1531Ile
ENST00000525022.1:n.487C>T
ENST00000526037.5:n.352C>T
ENST00000526168.5:c.380C>T
ENST00000531642.5:c.623C>T
NM_000352.4:c.4592C>T	NP_000343.2:p.Thr1531Ile
NM_001287174.1:c.4595C>T	NP_001274103.1:p.Thr1532Ile
XM_011520331.1:c.4592C>T	XP_011518633.1:p.Thr1531Ile
XM_011520333.1:c.3092C>T	XP_011518635.1:p.Thr1031Ile
XR_930890.1:n.4554C>T
NM_001351295.1:c.4658C>T	NP_001338224.1:p.Thr1553Ile
NM_001351296.1:c.4592C>T	NP_001338225.1:p.Thr1531Ile
NM_001351297.1:c.4589C>T	NP_001338226.1:p.Thr1530Ile
NR_147094.1:n.4887C>T
XM_017018197.2:c.4661C>T	XP_016873686.1:p.Thr1554Ile
XM_017018199.1:c.4658C>T	XP_016873688.1:p.Thr1553Ile
XM_017018202.1:c.3158C>T	XP_016873691.1:p.Thr1053Ile
XM_017018204.1:c.2549C>T	XP_016873693.1:p.Thr850Ile
XM_024448668.1:c.2960C>T	XP_024304436.1:p.Thr987Ile
XR_001747945.2:n.4629C>T
XR_001747946.2:n.4560C>T
XR_002957189.1:n.6343C>T
NM_000352.6:c.4592C>T MANE Select	NP_000343.2:p.Thr1531Ile
NM_001287174.2:c.4595C>T	NP_001274103.1:p.Thr1532Ile
NM_001351295.2:c.4658C>T	NP_001338224.1:p.Thr1553Ile
NM_001351296.2:c.4592C>T	NP_001338225.1:p.Thr1531Ile
NM_001351297.2:c.4589C>T	NP_001338226.1:p.Thr1530Ile
NR_147094.2:n.4887C>T
NM_001287174.3:c.4595C>T	NP_001274103.1:p.Thr1532Ile