Canonical Allele Identifier: CA379788164

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17417441A>C (hg19) ; chr11:g.17395894A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395894A>C , CM000673.2:g.17395894A>C	GRCh38
NC_000011.9:g.17417441A>C , CM000673.1:g.17417441A>C	GRCh37
NC_000011.8:g.17374017A>C	NCBI36
NG_008867.1:g.86009T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3757T>G
ENST00000528374.2:c.747T>G
ENST00000529967.6:n.2495T>G
ENST00000532220.2:n.3389T>G
ENST00000642611.2:n.5356T>G
ENST00000644057.2:n.599T>G
ENST00000645004.2:n.1655T>G
ENST00000682051.1:n.4318T>G
ENST00000682110.1:n.4371T>G
ENST00000682140.1:c.4022T>G	ENSP00000507829.1:p.Leu1341Arg
ENST00000682185.1:n.5461T>G
ENST00000682204.1:c.*2294T>G	ENSP00000507094.1:n.*2294T>G
ENST00000682215.1:n.4738T>G
ENST00000682288.1:c.*2587T>G	ENSP00000507506.1:n.*2587T>G
ENST00000682442.1:n.4591T>G
ENST00000682528.1:n.4448T>G
ENST00000682673.1:n.4315T>G
ENST00000682805.1:n.4776T>G
ENST00000682965.1:c.*578T>G	ENSP00000508229.1:n.*578T>G
ENST00000683093.1:n.5455T>G
ENST00000683136.1:c.4039T>G	ENSP00000507768.1:p.Ser1347Ala
ENST00000683153.1:n.4413T>G
ENST00000683365.1:n.4473T>G
ENST00000683377.1:n.4371T>G
ENST00000683456.1:c.*1293T>G	ENSP00000508318.1:n.*1293T>G
ENST00000683522.1:n.4371T>G
ENST00000683562.1:c.*2325T>G	ENSP00000508265.1:n.*2325T>G
ENST00000683693.1:n.5803T>G
ENST00000683725.1:c.4156T>G	ENSP00000507496.1:p.Ser1386Ala
ENST00000684010.1:n.4366T>G
ENST00000684157.1:n.5356T>G
ENST00000684253.1:n.4274T>G
ENST00000684288.1:c.*2328T>G	ENSP00000507143.1:n.*2328T>G
ENST00000684313.1:n.3803T>G
ENST00000684332.1:n.4444T>G
ENST00000684371.1:n.4477T>G
ENST00000684404.1:n.5399T>G
ENST00000684442.1:n.4595T>G
ENST00000684555.1:c.*2368T>G	ENSP00000507705.1:n.*2368T>G
ENST00000684571.1:c.3997T>G	ENSP00000506935.1:p.Ser1333Ala
ENST00000684593.1:c.*3861T>G	ENSP00000507005.1:n.*3861T>G
ENST00000684711.1:c.*2552T>G	ENSP00000506841.1:n.*2552T>G
ENST00000302539.9:c.4159T>G	ENSP00000303960.4:p.Ser1387Ala
ENST00000389817.8:c.4156T>G MANE Select	ENSP00000374467.4:p.Ser1386Ala
ENST00000642271.1:c.4153T>G	ENSP00000493749.1:p.Ser1385Ala
ENST00000642579.1:c.2210T>G
ENST00000642611.1:n.5241T>G
ENST00000642902.1:c.3938T>G
ENST00000643260.1:c.4156T>G	ENSP00000494450.1:p.Ser1386Ala
ENST00000643562.1:c.*2278T>G	ENSP00000496124.1:n.*2278T>G
ENST00000643925.1:c.2796T>G
ENST00000644057.1:n.233T>G
ENST00000644484.1:c.*3542T>G	ENSP00000493558.1:n.*3542T>G
ENST00000644675.1:c.*2328T>G	ENSP00000494567.1:n.*2328T>G
ENST00000644757.1:c.*3202+370T>G	ENSP00000495085.1:n.*3202+370T>G
ENST00000644772.1:c.4222T>G	ENSP00000494321.1:p.Ser1408Ala
ENST00000645004.1:n.1849T>G
ENST00000645076.1:c.3355T>G
ENST00000645417.1:c.1344T>G
ENST00000645744.1:c.*3921T>G	ENSP00000494564.1:n.*3921T>G
ENST00000645760.1:c.4577T>G
ENST00000645884.1:c.*1439T>G	ENSP00000495516.1:n.*1439T>G
ENST00000646003.1:c.*2258T>G	ENSP00000495259.1:n.*2258T>G
ENST00000646207.1:c.*2993T>G	ENSP00000495025.1:n.*2993T>G
ENST00000646276.1:c.*3560T>G	ENSP00000496070.1:n.*3560T>G
ENST00000646592.1:c.3462T>G
ENST00000646902.1:c.4123T>G	ENSP00000494101.1:p.Ser1375Ala
ENST00000646993.1:c.*2698T>G	ENSP00000493720.1:n.*2698T>G
ENST00000647013.1:c.4162T>G	ENSP00000496741.1:n.4162T>G
ENST00000647015.1:c.3907T>G	ENSP00000495389.1:p.Ser1303Ala
ENST00000647086.1:c.*3742T>G	ENSP00000493677.1:n.*3742T>G
ENST00000647158.1:c.*2443T>G	ENSP00000495744.1:n.*2443T>G
ENST00000302539.8:c.4159T>G	ENSP00000303960.4:p.Ser1387Ala
ENST00000389817.7:c.4156T>G	ENSP00000374467.3:p.Ser1386Ala
ENST00000525022.1:n.22T>G
ENST00000526168.5:c.24T>G
NM_000352.4:c.4156T>G	NP_000343.2:p.Ser1386Ala
NM_001287174.1:c.4159T>G	NP_001274103.1:p.Ser1387Ala
XM_011520331.1:c.4156T>G	XP_011518633.1:p.Ser1386Ala
XM_011520332.1:c.4159T>G	XP_011518634.1:p.Ser1387Ala
XM_011520333.1:c.2656T>G	XP_011518635.1:p.Ser886Ala
XR_930890.1:n.4222T>G
NM_001351295.1:c.4222T>G	NP_001338224.1:p.Ser1408Ala
NM_001351296.1:c.4156T>G	NP_001338225.1:p.Ser1386Ala
NM_001351297.1:c.4153T>G	NP_001338226.1:p.Ser1385Ala
NR_147094.1:n.4451T>G
XM_017018197.2:c.4225T>G	XP_016873686.1:p.Ser1409Ala
XM_017018199.1:c.4222T>G	XP_016873688.1:p.Ser1408Ala
XM_017018201.2:c.4225T>G	XP_016873690.1:p.Ser1409Ala
XM_017018202.1:c.2722T>G	XP_016873691.1:p.Ser908Ala
XM_017018204.1:c.2113T>G	XP_016873693.1:p.Ser705Ala
XM_024448668.1:c.2524T>G	XP_024304436.1:p.Ser842Ala
XR_001747945.2:n.4297T>G
XR_001747946.2:n.4228T>G
XR_002957189.1:n.5878T>G
NM_000352.6:c.4156T>G MANE Select	NP_000343.2:p.Ser1386Ala
NM_001287174.2:c.4159T>G	NP_001274103.1:p.Ser1387Ala
NM_001351295.2:c.4222T>G	NP_001338224.1:p.Ser1408Ala
NM_001351296.2:c.4156T>G	NP_001338225.1:p.Ser1386Ala
NM_001351297.2:c.4153T>G	NP_001338226.1:p.Ser1385Ala
NR_147094.2:n.4451T>G
NM_001287174.3:c.4159T>G	NP_001274103.1:p.Ser1387Ala