Canonical Allele Identifier: CA379788258

Gene: ABCC8

Linked Data

• ClinVar Variation Id: 2829734
• ClinVar RCV Id: RCV003686414
• MyVariant Identifiers: chr11:g.17417450C>G (hg19) ; chr11:g.17395903C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395903C>G , CM000673.2:g.17395903C>G	GRCh38
NC_000011.9:g.17417450C>G , CM000673.1:g.17417450C>G	GRCh37
NC_000011.8:g.17374026C>G	NCBI36
NG_008867.1:g.86000G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3748G>C
ENST00000528374.2:c.738G>C
ENST00000529967.6:n.2486G>C
ENST00000532220.2:n.3380G>C
ENST00000642611.2:n.5347G>C
ENST00000644057.2:n.590G>C
ENST00000645004.2:n.1646G>C
ENST00000682051.1:n.4309G>C
ENST00000682110.1:n.4362G>C
ENST00000682140.1:c.4013G>C	ENSP00000507829.1:p.Trp1338Ser
ENST00000682185.1:n.5452G>C
ENST00000682204.1:c.*2285G>C	ENSP00000507094.1:n.*2285G>C
ENST00000682215.1:n.4729G>C
ENST00000682288.1:c.*2578G>C	ENSP00000507506.1:n.*2578G>C
ENST00000682442.1:n.4582G>C
ENST00000682528.1:n.4439G>C
ENST00000682673.1:n.4306G>C
ENST00000682805.1:n.4767G>C
ENST00000682965.1:c.*569G>C	ENSP00000508229.1:n.*569G>C
ENST00000683093.1:n.5446G>C
ENST00000683136.1:c.4030G>C	ENSP00000507768.1:p.Gly1344Arg
ENST00000683153.1:n.4404G>C
ENST00000683365.1:n.4464G>C
ENST00000683377.1:n.4362G>C
ENST00000683456.1:c.*1284G>C	ENSP00000508318.1:n.*1284G>C
ENST00000683522.1:n.4362G>C
ENST00000683562.1:c.*2316G>C	ENSP00000508265.1:n.*2316G>C
ENST00000683693.1:n.5794G>C
ENST00000683725.1:c.4147G>C	ENSP00000507496.1:p.Gly1383Arg
ENST00000684010.1:n.4357G>C
ENST00000684157.1:n.5347G>C
ENST00000684253.1:n.4265G>C
ENST00000684288.1:c.*2319G>C	ENSP00000507143.1:n.*2319G>C
ENST00000684313.1:n.3794G>C
ENST00000684332.1:n.4435G>C
ENST00000684371.1:n.4468G>C
ENST00000684404.1:n.5390G>C
ENST00000684442.1:n.4586G>C
ENST00000684555.1:c.*2359G>C	ENSP00000507705.1:n.*2359G>C
ENST00000684571.1:c.3988G>C	ENSP00000506935.1:p.Gly1330Arg
ENST00000684593.1:c.*3852G>C	ENSP00000507005.1:n.*3852G>C
ENST00000684711.1:c.*2543G>C	ENSP00000506841.1:n.*2543G>C
ENST00000302539.9:c.4150G>C	ENSP00000303960.4:p.Gly1384Arg
ENST00000389817.8:c.4147G>C MANE Select	ENSP00000374467.4:p.Gly1383Arg
ENST00000642271.1:c.4144G>C	ENSP00000493749.1:p.Gly1382Arg
ENST00000642579.1:c.2201G>C
ENST00000642611.1:n.5232G>C
ENST00000642902.1:c.3929G>C
ENST00000643260.1:c.4147G>C	ENSP00000494450.1:p.Gly1383Arg
ENST00000643562.1:c.*2269G>C	ENSP00000496124.1:n.*2269G>C
ENST00000643925.1:c.2787G>C
ENST00000644057.1:n.224G>C
ENST00000644484.1:c.*3533G>C	ENSP00000493558.1:n.*3533G>C
ENST00000644675.1:c.*2319G>C	ENSP00000494567.1:n.*2319G>C
ENST00000644757.1:c.*3202+361G>C	ENSP00000495085.1:n.*3202+361G>C
ENST00000644772.1:c.4213G>C	ENSP00000494321.1:p.Gly1405Arg
ENST00000645004.1:n.1840G>C
ENST00000645076.1:c.3346G>C
ENST00000645417.1:c.1335G>C
ENST00000645744.1:c.*3912G>C	ENSP00000494564.1:n.*3912G>C
ENST00000645760.1:c.4568G>C
ENST00000645884.1:c.*1430G>C	ENSP00000495516.1:n.*1430G>C
ENST00000646003.1:c.*2249G>C	ENSP00000495259.1:n.*2249G>C
ENST00000646207.1:c.*2984G>C	ENSP00000495025.1:n.*2984G>C
ENST00000646276.1:c.*3551G>C	ENSP00000496070.1:n.*3551G>C
ENST00000646592.1:c.3453G>C
ENST00000646902.1:c.4114G>C	ENSP00000494101.1:p.Gly1372Arg
ENST00000646993.1:c.*2689G>C	ENSP00000493720.1:n.*2689G>C
ENST00000647013.1:c.4153G>C	ENSP00000496741.1:n.4153G>C
ENST00000647015.1:c.3898G>C	ENSP00000495389.1:p.Gly1300Arg
ENST00000647086.1:c.*3733G>C	ENSP00000493677.1:n.*3733G>C
ENST00000647158.1:c.*2434G>C	ENSP00000495744.1:n.*2434G>C
ENST00000302539.8:c.4150G>C	ENSP00000303960.4:p.Gly1384Arg
ENST00000389817.7:c.4147G>C	ENSP00000374467.3:p.Gly1383Arg
ENST00000525022.1:n.13G>C
ENST00000526168.5:c.15G>C
NM_000352.4:c.4147G>C	NP_000343.2:p.Gly1383Arg
NM_001287174.1:c.4150G>C	NP_001274103.1:p.Gly1384Arg
XM_011520331.1:c.4147G>C	XP_011518633.1:p.Gly1383Arg
XM_011520332.1:c.4150G>C	XP_011518634.1:p.Gly1384Arg
XM_011520333.1:c.2647G>C	XP_011518635.1:p.Gly883Arg
XR_930890.1:n.4213G>C
NM_001351295.1:c.4213G>C	NP_001338224.1:p.Gly1405Arg
NM_001351296.1:c.4147G>C	NP_001338225.1:p.Gly1383Arg
NM_001351297.1:c.4144G>C	NP_001338226.1:p.Gly1382Arg
NR_147094.1:n.4442G>C
XM_017018197.2:c.4216G>C	XP_016873686.1:p.Gly1406Arg
XM_017018199.1:c.4213G>C	XP_016873688.1:p.Gly1405Arg
XM_017018201.2:c.4216G>C	XP_016873690.1:p.Gly1406Arg
XM_017018202.1:c.2713G>C	XP_016873691.1:p.Gly905Arg
XM_017018204.1:c.2104G>C	XP_016873693.1:p.Gly702Arg
XM_024448668.1:c.2515G>C	XP_024304436.1:p.Gly839Arg
XR_001747945.2:n.4288G>C
XR_001747946.2:n.4219G>C
XR_002957189.1:n.5869G>C
NM_000352.6:c.4147G>C MANE Select	NP_000343.2:p.Gly1383Arg
NM_001287174.2:c.4150G>C	NP_001274103.1:p.Gly1384Arg
NM_001351295.2:c.4213G>C	NP_001338224.1:p.Gly1405Arg
NM_001351296.2:c.4147G>C	NP_001338225.1:p.Gly1383Arg
NM_001351297.2:c.4144G>C	NP_001338226.1:p.Gly1382Arg
NR_147094.2:n.4442G>C
NM_001287174.3:c.4150G>C	NP_001274103.1:p.Gly1384Arg