Canonical Allele Identifier: CA379787746

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417404A>G (hg19) ; chr11:g.17395857A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395857A>G , CM000673.2:g.17395857A>G	GRCh38
NC_000011.9:g.17417404A>G , CM000673.1:g.17417404A>G	GRCh37
NC_000011.8:g.17373980A>G	NCBI36
NG_008867.1:g.86046T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3794T>C
ENST00000528374.2:c.784T>C
ENST00000529967.6:n.2532T>C
ENST00000532220.2:n.3426T>C
ENST00000642611.2:n.5393T>C
ENST00000644057.2:n.636T>C
ENST00000645004.2:n.1692T>C
ENST00000682051.1:n.4355T>C
ENST00000682110.1:n.4408T>C
ENST00000682140.1:c.4059T>C	ENSP00000507829.1:p.Val1353=
ENST00000682185.1:n.5498T>C
ENST00000682204.1:c.*2331T>C	ENSP00000507094.1:n.*2331T>C
ENST00000682215.1:n.4775T>C
ENST00000682288.1:c.*2624T>C	ENSP00000507506.1:n.*2624T>C
ENST00000682442.1:n.4628T>C
ENST00000682528.1:n.4485T>C
ENST00000682673.1:n.4352T>C
ENST00000682805.1:n.4813T>C
ENST00000682965.1:c.*615T>C	ENSP00000508229.1:n.*615T>C
ENST00000683093.1:n.5492T>C
ENST00000683136.1:c.4076T>C	ENSP00000507768.1:p.Phe1359Ser
ENST00000683153.1:n.4450T>C
ENST00000683365.1:n.4510T>C
ENST00000683377.1:n.4408T>C
ENST00000683456.1:c.*1330T>C	ENSP00000508318.1:n.*1330T>C
ENST00000683522.1:n.4408T>C
ENST00000683562.1:c.*2362T>C	ENSP00000508265.1:n.*2362T>C
ENST00000683693.1:n.5840T>C
ENST00000683725.1:c.4193T>C	ENSP00000507496.1:p.Phe1398Ser
ENST00000684010.1:n.4403T>C
ENST00000684157.1:n.5393T>C
ENST00000684253.1:n.4311T>C
ENST00000684288.1:c.*2365T>C	ENSP00000507143.1:n.*2365T>C
ENST00000684313.1:n.3840T>C
ENST00000684332.1:n.4481T>C
ENST00000684371.1:n.4514T>C
ENST00000684404.1:n.5436T>C
ENST00000684442.1:n.4632T>C
ENST00000684555.1:c.*2405T>C	ENSP00000507705.1:n.*2405T>C
ENST00000684571.1:c.4034T>C	ENSP00000506935.1:p.Phe1345Ser
ENST00000684593.1:c.*3898T>C	ENSP00000507005.1:n.*3898T>C
ENST00000684711.1:c.*2589T>C	ENSP00000506841.1:n.*2589T>C
ENST00000302539.9:c.4196T>C	ENSP00000303960.4:p.Phe1399Ser
ENST00000389817.8:c.4193T>C MANE Select	ENSP00000374467.4:p.Phe1398Ser
ENST00000642271.1:c.4190T>C	ENSP00000493749.1:p.Phe1397Ser
ENST00000642579.1:c.2247T>C
ENST00000642611.1:n.5278T>C
ENST00000642902.1:c.3975T>C
ENST00000643260.1:c.4193T>C	ENSP00000494450.1:p.Phe1398Ser
ENST00000643562.1:c.*2315T>C	ENSP00000496124.1:n.*2315T>C
ENST00000643925.1:c.2833T>C
ENST00000644057.1:n.270T>C
ENST00000644484.1:c.*3579T>C	ENSP00000493558.1:n.*3579T>C
ENST00000644675.1:c.*2365T>C	ENSP00000494567.1:n.*2365T>C
ENST00000644757.1:c.*3202+407T>C	ENSP00000495085.1:n.*3202+407T>C
ENST00000644772.1:c.4259T>C	ENSP00000494321.1:p.Phe1420Ser
ENST00000645004.1:n.1886T>C
ENST00000645076.1:c.3392T>C
ENST00000645417.1:c.1381T>C
ENST00000645744.1:c.*3958T>C	ENSP00000494564.1:n.*3958T>C
ENST00000645760.1:c.4614T>C
ENST00000645884.1:c.*1476T>C	ENSP00000495516.1:n.*1476T>C
ENST00000646003.1:c.*2295T>C	ENSP00000495259.1:n.*2295T>C
ENST00000646207.1:c.*3030T>C	ENSP00000495025.1:n.*3030T>C
ENST00000646276.1:c.*3597T>C	ENSP00000496070.1:n.*3597T>C
ENST00000646592.1:c.3499T>C
ENST00000646902.1:c.4160T>C	ENSP00000494101.1:p.Phe1387Ser
ENST00000646993.1:c.*2735T>C	ENSP00000493720.1:n.*2735T>C
ENST00000647013.1:c.4199T>C	ENSP00000496741.1:n.4199T>C
ENST00000647015.1:c.3944T>C	ENSP00000495389.1:p.Phe1315Ser
ENST00000647086.1:c.*3779T>C	ENSP00000493677.1:n.*3779T>C
ENST00000647158.1:c.*2480T>C	ENSP00000495744.1:n.*2480T>C
ENST00000302539.8:c.4196T>C	ENSP00000303960.4:p.Phe1399Ser
ENST00000389817.7:c.4193T>C	ENSP00000374467.3:p.Phe1398Ser
ENST00000525022.1:n.59T>C
ENST00000526168.5:c.61T>C
ENST00000531642.5:c.29T>C
NM_000352.4:c.4193T>C	NP_000343.2:p.Phe1398Ser
NM_001287174.1:c.4196T>C	NP_001274103.1:p.Phe1399Ser
XM_011520331.1:c.4193T>C	XP_011518633.1:p.Phe1398Ser
XM_011520332.1:c.4196T>C	XP_011518634.1:p.Phe1399Ser
XM_011520333.1:c.2693T>C	XP_011518635.1:p.Phe898Ser
XR_930890.1:n.4259T>C
NM_001351295.1:c.4259T>C	NP_001338224.1:p.Phe1420Ser
NM_001351296.1:c.4193T>C	NP_001338225.1:p.Phe1398Ser
NM_001351297.1:c.4190T>C	NP_001338226.1:p.Phe1397Ser
NR_147094.1:n.4488T>C
XM_017018197.2:c.4262T>C	XP_016873686.1:p.Phe1421Ser
XM_017018199.1:c.4259T>C	XP_016873688.1:p.Phe1420Ser
XM_017018201.2:c.4262T>C	XP_016873690.1:p.Phe1421Ser
XM_017018202.1:c.2759T>C	XP_016873691.1:p.Phe920Ser
XM_017018204.1:c.2150T>C	XP_016873693.1:p.Phe717Ser
XM_024448668.1:c.2561T>C	XP_024304436.1:p.Phe854Ser
XR_001747945.2:n.4334T>C
XR_001747946.2:n.4265T>C
XR_002957189.1:n.5915T>C
NM_000352.6:c.4193T>C MANE Select	NP_000343.2:p.Phe1398Ser
NM_001287174.2:c.4196T>C	NP_001274103.1:p.Phe1399Ser
NM_001351295.2:c.4259T>C	NP_001338224.1:p.Phe1420Ser
NM_001351296.2:c.4193T>C	NP_001338225.1:p.Phe1398Ser
NM_001351297.2:c.4190T>C	NP_001338226.1:p.Phe1397Ser
NR_147094.2:n.4488T>C
NM_001287174.3:c.4196T>C	NP_001274103.1:p.Phe1399Ser