Canonical Allele Identifier: CA379788192

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 1338614
• ClinVar RCV Id: RCV001817985 ; RCV003388053
• dbSNP Id: rs2133402479
• MyVariant Identifiers: chr11:g.17417444A>G (hg19) ; chr11:g.17395897A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395897A>G , CM000673.2:g.17395897A>G	GRCh38
NC_000011.9:g.17417444A>G , CM000673.1:g.17417444A>G	GRCh37
NC_000011.8:g.17374020A>G	NCBI36
NG_008867.1:g.86006T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3754T>C
ENST00000528374.2:c.744T>C
ENST00000529967.6:n.2492T>C
ENST00000532220.2:n.3386T>C
ENST00000642611.2:n.5353T>C
ENST00000644057.2:n.596T>C
ENST00000645004.2:n.1652T>C
ENST00000682051.1:n.4315T>C
ENST00000682110.1:n.4368T>C
ENST00000682140.1:c.4019T>C	ENSP00000507829.1:p.Val1340Ala
ENST00000682185.1:n.5458T>C
ENST00000682204.1:c.*2291T>C	ENSP00000507094.1:n.*2291T>C
ENST00000682215.1:n.4735T>C
ENST00000682288.1:c.*2584T>C	ENSP00000507506.1:n.*2584T>C
ENST00000682442.1:n.4588T>C
ENST00000682528.1:n.4445T>C
ENST00000682673.1:n.4312T>C
ENST00000682805.1:n.4773T>C
ENST00000682965.1:c.*575T>C	ENSP00000508229.1:n.*575T>C
ENST00000683093.1:n.5452T>C
ENST00000683136.1:c.4036T>C	ENSP00000507768.1:p.Ser1346Pro
ENST00000683153.1:n.4410T>C
ENST00000683365.1:n.4470T>C
ENST00000683377.1:n.4368T>C
ENST00000683456.1:c.*1290T>C	ENSP00000508318.1:n.*1290T>C
ENST00000683522.1:n.4368T>C
ENST00000683562.1:c.*2322T>C	ENSP00000508265.1:n.*2322T>C
ENST00000683693.1:n.5800T>C
ENST00000683725.1:c.4153T>C	ENSP00000507496.1:p.Ser1385Pro
ENST00000684010.1:n.4363T>C
ENST00000684157.1:n.5353T>C
ENST00000684253.1:n.4271T>C
ENST00000684288.1:c.*2325T>C	ENSP00000507143.1:n.*2325T>C
ENST00000684313.1:n.3800T>C
ENST00000684332.1:n.4441T>C
ENST00000684371.1:n.4474T>C
ENST00000684404.1:n.5396T>C
ENST00000684442.1:n.4592T>C
ENST00000684555.1:c.*2365T>C	ENSP00000507705.1:n.*2365T>C
ENST00000684571.1:c.3994T>C	ENSP00000506935.1:p.Ser1332Pro
ENST00000684593.1:c.*3858T>C	ENSP00000507005.1:n.*3858T>C
ENST00000684711.1:c.*2549T>C	ENSP00000506841.1:n.*2549T>C
ENST00000302539.9:c.4156T>C	ENSP00000303960.4:p.Ser1386Pro
ENST00000389817.8:c.4153T>C MANE Select	ENSP00000374467.4:p.Ser1385Pro
ENST00000642271.1:c.4150T>C	ENSP00000493749.1:p.Ser1384Pro
ENST00000642579.1:c.2207T>C
ENST00000642611.1:n.5238T>C
ENST00000642902.1:c.3935T>C
ENST00000643260.1:c.4153T>C	ENSP00000494450.1:p.Ser1385Pro
ENST00000643562.1:c.*2275T>C	ENSP00000496124.1:n.*2275T>C
ENST00000643925.1:c.2793T>C
ENST00000644057.1:n.230T>C
ENST00000644484.1:c.*3539T>C	ENSP00000493558.1:n.*3539T>C
ENST00000644675.1:c.*2325T>C	ENSP00000494567.1:n.*2325T>C
ENST00000644757.1:c.*3202+367T>C	ENSP00000495085.1:n.*3202+367T>C
ENST00000644772.1:c.4219T>C	ENSP00000494321.1:p.Ser1407Pro
ENST00000645004.1:n.1846T>C
ENST00000645076.1:c.3352T>C
ENST00000645417.1:c.1341T>C
ENST00000645744.1:c.*3918T>C	ENSP00000494564.1:n.*3918T>C
ENST00000645760.1:c.4574T>C
ENST00000645884.1:c.*1436T>C	ENSP00000495516.1:n.*1436T>C
ENST00000646003.1:c.*2255T>C	ENSP00000495259.1:n.*2255T>C
ENST00000646207.1:c.*2990T>C	ENSP00000495025.1:n.*2990T>C
ENST00000646276.1:c.*3557T>C	ENSP00000496070.1:n.*3557T>C
ENST00000646592.1:c.3459T>C
ENST00000646902.1:c.4120T>C	ENSP00000494101.1:p.Ser1374Pro
ENST00000646993.1:c.*2695T>C	ENSP00000493720.1:n.*2695T>C
ENST00000647013.1:c.4159T>C	ENSP00000496741.1:n.4159T>C
ENST00000647015.1:c.3904T>C	ENSP00000495389.1:p.Ser1302Pro
ENST00000647086.1:c.*3739T>C	ENSP00000493677.1:n.*3739T>C
ENST00000647158.1:c.*2440T>C	ENSP00000495744.1:n.*2440T>C
ENST00000302539.8:c.4156T>C	ENSP00000303960.4:p.Ser1386Pro
ENST00000389817.7:c.4153T>C	ENSP00000374467.3:p.Ser1385Pro
ENST00000525022.1:n.19T>C
ENST00000526168.5:c.21T>C
NM_000352.4:c.4153T>C	NP_000343.2:p.Ser1385Pro
NM_001287174.1:c.4156T>C	NP_001274103.1:p.Ser1386Pro
XM_011520331.1:c.4153T>C	XP_011518633.1:p.Ser1385Pro
XM_011520332.1:c.4156T>C	XP_011518634.1:p.Ser1386Pro
XM_011520333.1:c.2653T>C	XP_011518635.1:p.Ser885Pro
XR_930890.1:n.4219T>C
NM_001351295.1:c.4219T>C	NP_001338224.1:p.Ser1407Pro
NM_001351296.1:c.4153T>C	NP_001338225.1:p.Ser1385Pro
NM_001351297.1:c.4150T>C	NP_001338226.1:p.Ser1384Pro
NR_147094.1:n.4448T>C
XM_017018197.2:c.4222T>C	XP_016873686.1:p.Ser1408Pro
XM_017018199.1:c.4219T>C	XP_016873688.1:p.Ser1407Pro
XM_017018201.2:c.4222T>C	XP_016873690.1:p.Ser1408Pro
XM_017018202.1:c.2719T>C	XP_016873691.1:p.Ser907Pro
XM_017018204.1:c.2110T>C	XP_016873693.1:p.Ser704Pro
XM_024448668.1:c.2521T>C	XP_024304436.1:p.Ser841Pro
XR_001747945.2:n.4294T>C
XR_001747946.2:n.4225T>C
XR_002957189.1:n.5875T>C
NM_000352.6:c.4153T>C MANE Select	NP_000343.2:p.Ser1385Pro
NM_001287174.2:c.4156T>C	NP_001274103.1:p.Ser1386Pro
NM_001351295.2:c.4219T>C	NP_001338224.1:p.Ser1407Pro
NM_001351296.2:c.4153T>C	NP_001338225.1:p.Ser1385Pro
NM_001351297.2:c.4150T>C	NP_001338226.1:p.Ser1384Pro
NR_147094.2:n.4448T>C
NM_001287174.3:c.4156T>C	NP_001274103.1:p.Ser1386Pro