Canonical Allele Identifier: CA379788597

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17395926-C-T
• MyVariant Identifiers: chr11:g.17417473C>T (hg19) ; chr11:g.17395926C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395926C>T , CM000673.2:g.17395926C>T	GRCh38
NC_000011.9:g.17417473C>T , CM000673.1:g.17417473C>T	GRCh37
NC_000011.8:g.17374049C>T	NCBI36
NG_008867.1:g.85977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3725G>A
ENST00000528374.2:c.715G>A
ENST00000529967.6:n.2463G>A
ENST00000532220.2:n.3357G>A
ENST00000642611.2:n.5324G>A
ENST00000644057.2:n.567G>A
ENST00000645004.2:n.1623G>A
ENST00000682051.1:n.4286G>A
ENST00000682110.1:n.4339G>A
ENST00000682140.1:c.3990G>A	ENSP00000507829.1:p.Arg1330=
ENST00000682185.1:n.5429G>A
ENST00000682204.1:c.*2262G>A	ENSP00000507094.1:n.*2262G>A
ENST00000682215.1:n.4706G>A
ENST00000682288.1:c.*2555G>A	ENSP00000507506.1:n.*2555G>A
ENST00000682442.1:n.4559G>A
ENST00000682528.1:n.4416G>A
ENST00000682673.1:n.4283G>A
ENST00000682805.1:n.4744G>A
ENST00000682965.1:c.*546G>A	ENSP00000508229.1:n.*546G>A
ENST00000683093.1:n.5423G>A
ENST00000683136.1:c.4007G>A	ENSP00000507768.1:p.Gly1336Glu
ENST00000683153.1:n.4381G>A
ENST00000683365.1:n.4441G>A
ENST00000683377.1:n.4339G>A
ENST00000683456.1:c.*1261G>A	ENSP00000508318.1:n.*1261G>A
ENST00000683522.1:n.4339G>A
ENST00000683562.1:c.*2293G>A	ENSP00000508265.1:n.*2293G>A
ENST00000683693.1:n.5771G>A
ENST00000683725.1:c.4124G>A	ENSP00000507496.1:p.Gly1375Glu
ENST00000684010.1:n.4334G>A
ENST00000684157.1:n.5324G>A
ENST00000684253.1:n.4242G>A
ENST00000684288.1:c.*2296G>A	ENSP00000507143.1:n.*2296G>A
ENST00000684313.1:n.3771G>A
ENST00000684332.1:n.4412G>A
ENST00000684371.1:n.4445G>A
ENST00000684404.1:n.5367G>A
ENST00000684442.1:n.4563G>A
ENST00000684555.1:c.*2336G>A	ENSP00000507705.1:n.*2336G>A
ENST00000684571.1:c.3965G>A	ENSP00000506935.1:p.Gly1322Glu
ENST00000684593.1:c.*3829G>A	ENSP00000507005.1:n.*3829G>A
ENST00000684711.1:c.*2520G>A	ENSP00000506841.1:n.*2520G>A
ENST00000302539.9:c.4127G>A	ENSP00000303960.4:p.Gly1376Glu
ENST00000389817.8:c.4124G>A MANE Select	ENSP00000374467.4:p.Gly1375Glu
ENST00000642271.1:c.4121G>A	ENSP00000493749.1:p.Gly1374Glu
ENST00000642579.1:c.2178G>A
ENST00000642611.1:n.5209G>A
ENST00000642902.1:c.3906G>A
ENST00000643260.1:c.4124G>A	ENSP00000494450.1:p.Gly1375Glu
ENST00000643562.1:c.*2246G>A	ENSP00000496124.1:n.*2246G>A
ENST00000643925.1:c.2764G>A
ENST00000644057.1:n.201G>A
ENST00000644484.1:c.*3510G>A	ENSP00000493558.1:n.*3510G>A
ENST00000644675.1:c.*2296G>A	ENSP00000494567.1:n.*2296G>A
ENST00000644757.1:c.*3202+338G>A	ENSP00000495085.1:n.*3202+338G>A
ENST00000644772.1:c.4190G>A	ENSP00000494321.1:p.Gly1397Glu
ENST00000645004.1:n.1817G>A
ENST00000645076.1:c.3323G>A
ENST00000645417.1:c.1312G>A
ENST00000645744.1:c.*3889G>A	ENSP00000494564.1:n.*3889G>A
ENST00000645760.1:c.4545G>A
ENST00000645884.1:c.*1407G>A	ENSP00000495516.1:n.*1407G>A
ENST00000646003.1:c.*2226G>A	ENSP00000495259.1:n.*2226G>A
ENST00000646207.1:c.*2961G>A	ENSP00000495025.1:n.*2961G>A
ENST00000646276.1:c.*3528G>A	ENSP00000496070.1:n.*3528G>A
ENST00000646592.1:c.3430G>A
ENST00000646902.1:c.4091G>A	ENSP00000494101.1:p.Gly1364Glu
ENST00000646993.1:c.*2666G>A	ENSP00000493720.1:n.*2666G>A
ENST00000647013.1:c.4130G>A	ENSP00000496741.1:n.4130G>A
ENST00000647015.1:c.3875G>A	ENSP00000495389.1:p.Gly1292Glu
ENST00000647086.1:c.*3710G>A	ENSP00000493677.1:n.*3710G>A
ENST00000647158.1:c.*2411G>A	ENSP00000495744.1:n.*2411G>A
ENST00000302539.8:c.4127G>A	ENSP00000303960.4:p.Gly1376Glu
ENST00000389817.7:c.4124G>A	ENSP00000374467.3:p.Gly1375Glu
ENST00000528374.1:c.606G>A
ENST00000532220.1:n.598G>A
NM_000352.4:c.4124G>A	NP_000343.2:p.Gly1375Glu
NM_001287174.1:c.4127G>A	NP_001274103.1:p.Gly1376Glu
XM_011520331.1:c.4124G>A	XP_011518633.1:p.Gly1375Glu
XM_011520332.1:c.4127G>A	XP_011518634.1:p.Gly1376Glu
XM_011520333.1:c.2624G>A	XP_011518635.1:p.Gly875Glu
XR_930890.1:n.4190G>A
NM_001351295.1:c.4190G>A	NP_001338224.1:p.Gly1397Glu
NM_001351296.1:c.4124G>A	NP_001338225.1:p.Gly1375Glu
NM_001351297.1:c.4121G>A	NP_001338226.1:p.Gly1374Glu
NR_147094.1:n.4419G>A
XM_017018197.2:c.4193G>A	XP_016873686.1:p.Gly1398Glu
XM_017018199.1:c.4190G>A	XP_016873688.1:p.Gly1397Glu
XM_017018201.2:c.4193G>A	XP_016873690.1:p.Gly1398Glu
XM_017018202.1:c.2690G>A	XP_016873691.1:p.Gly897Glu
XM_017018204.1:c.2081G>A	XP_016873693.1:p.Gly694Glu
XM_024448668.1:c.2492G>A	XP_024304436.1:p.Gly831Glu
XR_001747945.2:n.4265G>A
XR_001747946.2:n.4196G>A
XR_002957189.1:n.5846G>A
NM_000352.6:c.4124G>A MANE Select	NP_000343.2:p.Gly1375Glu
NM_001287174.2:c.4127G>A	NP_001274103.1:p.Gly1376Glu
NM_001351295.2:c.4190G>A	NP_001338224.1:p.Gly1397Glu
NM_001351296.2:c.4124G>A	NP_001338225.1:p.Gly1375Glu
NM_001351297.2:c.4121G>A	NP_001338226.1:p.Gly1374Glu
NR_147094.2:n.4419G>A
NM_001287174.3:c.4127G>A	NP_001274103.1:p.Gly1376Glu