Canonical Allele Identifier: CA379790440

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17418498T>G (hg19) ; chr11:g.17396951T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17396951T>G , CM000673.2:g.17396951T>G	GRCh38
NC_000011.9:g.17418498T>G , CM000673.1:g.17418498T>G	GRCh37
NC_000011.8:g.17375074T>G	NCBI36
NG_008867.1:g.84952A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3685A>C
ENST00000528374.2:c.675A>C
ENST00000529967.6:n.2423A>C
ENST00000532220.2:n.2332A>C
ENST00000642611.2:n.4299A>C
ENST00000644057.2:n.527A>C
ENST00000645004.2:n.1583A>C
ENST00000682051.1:n.4246A>C
ENST00000682110.1:n.4299A>C
ENST00000682140.1:c.3985+242A>C	ENSP00000507829.1:n.3985+242A>C
ENST00000682185.1:n.5389A>C
ENST00000682204.1:c.*2222A>C	ENSP00000507094.1:n.*2222A>C
ENST00000682215.1:n.4666A>C
ENST00000682288.1:c.*2515A>C	ENSP00000507506.1:n.*2515A>C
ENST00000682442.1:n.4519A>C
ENST00000682528.1:n.4376A>C
ENST00000682673.1:n.4243A>C
ENST00000682805.1:n.4666A>C
ENST00000682965.1:c.*506A>C	ENSP00000508229.1:n.*506A>C
ENST00000683093.1:n.4398A>C
ENST00000683136.1:c.3967A>C	ENSP00000507768.1:p.Lys1323Gln
ENST00000683153.1:n.4341A>C
ENST00000683365.1:n.4401A>C
ENST00000683377.1:n.4299A>C
ENST00000683456.1:c.*1221A>C	ENSP00000508318.1:n.*1221A>C
ENST00000683522.1:n.4299A>C
ENST00000683562.1:c.*2253A>C	ENSP00000508265.1:n.*2253A>C
ENST00000683693.1:n.4746A>C
ENST00000683725.1:c.4084A>C	ENSP00000507496.1:p.Lys1362Gln
ENST00000684010.1:n.4294A>C
ENST00000684157.1:n.4299A>C
ENST00000684253.1:n.4202A>C
ENST00000684288.1:c.*2256A>C	ENSP00000507143.1:n.*2256A>C
ENST00000684313.1:n.3731A>C
ENST00000684332.1:n.4372A>C
ENST00000684371.1:n.4405A>C
ENST00000684404.1:n.4342A>C
ENST00000684442.1:n.4523A>C
ENST00000684555.1:c.*2296A>C	ENSP00000507705.1:n.*2296A>C
ENST00000684571.1:c.3925A>C	ENSP00000506935.1:p.Lys1309Gln
ENST00000684593.1:c.*3789A>C	ENSP00000507005.1:n.*3789A>C
ENST00000684711.1:c.*2480A>C	ENSP00000506841.1:n.*2480A>C
ENST00000302539.9:c.4087A>C	ENSP00000303960.4:p.Lys1363Gln
ENST00000389817.8:c.4084A>C MANE Select	ENSP00000374467.4:p.Lys1362Gln
ENST00000642271.1:c.4081A>C	ENSP00000493749.1:p.Lys1361Gln
ENST00000642579.1:c.2138A>C
ENST00000642611.1:n.4184A>C
ENST00000642902.1:c.3866A>C
ENST00000643260.1:c.4084A>C	ENSP00000494450.1:p.Lys1362Gln
ENST00000643562.1:c.*2206A>C	ENSP00000496124.1:n.*2206A>C
ENST00000643925.1:c.2724A>C
ENST00000644057.1:n.161A>C
ENST00000644484.1:c.*2485A>C	ENSP00000493558.1:n.*2485A>C
ENST00000644675.1:c.*2256A>C	ENSP00000494567.1:n.*2256A>C
ENST00000644757.1:c.*2515A>C	ENSP00000495085.1:n.*2515A>C
ENST00000644772.1:c.4150A>C	ENSP00000494321.1:p.Lys1384Gln
ENST00000645004.1:n.1739A>C
ENST00000645076.1:c.3283A>C
ENST00000645417.1:c.1272A>C
ENST00000645744.1:c.*2864A>C	ENSP00000494564.1:n.*2864A>C
ENST00000645760.1:c.4505A>C
ENST00000645884.1:c.*1367A>C	ENSP00000495516.1:n.*1367A>C
ENST00000646003.1:c.*2186A>C	ENSP00000495259.1:n.*2186A>C
ENST00000646207.1:c.*2921A>C	ENSP00000495025.1:n.*2921A>C
ENST00000646276.1:c.*2503A>C	ENSP00000496070.1:n.*2503A>C
ENST00000646592.1:c.3390A>C
ENST00000646902.1:c.4051A>C	ENSP00000494101.1:p.Lys1351Gln
ENST00000646993.1:c.*2626A>C	ENSP00000493720.1:n.*2626A>C
ENST00000647013.1:c.4090A>C	ENSP00000496741.1:n.4090A>C
ENST00000647015.1:c.3835A>C	ENSP00000495389.1:p.Lys1279Gln
ENST00000647086.1:c.*3670A>C	ENSP00000493677.1:n.*3670A>C
ENST00000647158.1:c.*2371A>C	ENSP00000495744.1:n.*2371A>C
ENST00000302539.8:c.4087A>C	ENSP00000303960.4:p.Lys1363Gln
ENST00000389817.7:c.4084A>C	ENSP00000374467.3:p.Lys1362Gln
ENST00000527905.5:c.*1106A>C	ENSP00000431653.1:n.*1106A>C
ENST00000528374.1:c.566A>C
ENST00000531137.1:n.649A>C
ENST00000531891.1:c.422A>C
ENST00000532220.1:n.558A>C
NM_000352.4:c.4084A>C	NP_000343.2:p.Lys1362Gln
NM_001287174.1:c.4087A>C	NP_001274103.1:p.Lys1363Gln
XM_011520331.1:c.4084A>C	XP_011518633.1:p.Lys1362Gln
XM_011520332.1:c.4087A>C	XP_011518634.1:p.Lys1363Gln
XM_011520333.1:c.2584A>C	XP_011518635.1:p.Lys862Gln
XR_930890.1:n.4150A>C
NM_001351295.1:c.4150A>C	NP_001338224.1:p.Lys1384Gln
NM_001351296.1:c.4084A>C	NP_001338225.1:p.Lys1362Gln
NM_001351297.1:c.4081A>C	NP_001338226.1:p.Lys1361Gln
NR_147094.1:n.4379A>C
XM_017018197.2:c.4153A>C	XP_016873686.1:p.Lys1385Gln
XM_017018199.1:c.4150A>C	XP_016873688.1:p.Lys1384Gln
XM_017018201.2:c.4153A>C	XP_016873690.1:p.Lys1385Gln
XM_017018202.1:c.2650A>C	XP_016873691.1:p.Lys884Gln
XM_017018204.1:c.2041A>C	XP_016873693.1:p.Lys681Gln
XM_024448668.1:c.2452A>C	XP_024304436.1:p.Lys818Gln
XR_001747945.2:n.4225A>C
XR_001747946.2:n.4156A>C
XR_002957189.1:n.4821A>C
NM_000352.6:c.4084A>C MANE Select	NP_000343.2:p.Lys1362Gln
NM_001287174.2:c.4087A>C	NP_001274103.1:p.Lys1363Gln
NM_001351295.2:c.4150A>C	NP_001338224.1:p.Lys1384Gln
NM_001351296.2:c.4084A>C	NP_001338225.1:p.Lys1362Gln
NM_001351297.2:c.4081A>C	NP_001338226.1:p.Lys1361Gln
NR_147094.2:n.4379A>C
NM_001287174.3:c.4087A>C	NP_001274103.1:p.Lys1363Gln