Canonical Allele Identifier: CA597904449

Gene: ABCC8

Linked Data

• dbSNP Id: rs557953005
• gnomAD v2: 11-17418696-C-A
• gnomAD v4: 11-17397149-C-A
• MyVariant Identifiers: chr11:g.17418696C>A (hg19) ; chr11:g.17397149C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397149C>A , CM000673.2:g.17397149C>A	GRCh38
NC_000011.9:g.17418696C>A , CM000673.1:g.17418696C>A	GRCh37
NC_000011.8:g.17375272C>A	NCBI36
NG_008867.1:g.84754G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3487G>T
ENST00000528374.2:c.567+44G>T
ENST00000529967.6:n.2327+44G>T
ENST00000532220.2:n.2134G>T
ENST00000642611.2:n.4101G>T
ENST00000644057.2:n.431+44G>T
ENST00000645004.2:n.1487+44G>T
ENST00000682051.1:n.4048G>T
ENST00000682110.1:n.4101G>T
ENST00000682140.1:c.3985+44G>T	ENSP00000507829.1:n.3985+44G>T
ENST00000682185.1:n.5293+44G>T
ENST00000682204.1:c.*2126+44G>T	ENSP00000507094.1:n.*2126+44G>T
ENST00000682215.1:n.4468G>T
ENST00000682288.1:c.*2419+44G>T	ENSP00000507506.1:n.*2419+44G>T
ENST00000682442.1:n.4321G>T
ENST00000682528.1:n.4178G>T
ENST00000682673.1:n.4045G>T
ENST00000682805.1:n.4468G>T
ENST00000682965.1:c.*410+44G>T	ENSP00000508229.1:n.*410+44G>T
ENST00000683093.1:n.4200G>T
ENST00000683136.1:c.3871+44G>T	ENSP00000507768.1:n.3871+44G>T
ENST00000683153.1:n.4143G>T
ENST00000683365.1:n.4203G>T
ENST00000683377.1:n.4101G>T
ENST00000683456.1:c.*1125+44G>T	ENSP00000508318.1:n.*1125+44G>T
ENST00000683522.1:n.4101G>T
ENST00000683562.1:c.*2157+44G>T	ENSP00000508265.1:n.*2157+44G>T
ENST00000683693.1:n.4548G>T
ENST00000683725.1:c.3988+44G>T	ENSP00000507496.1:n.3988+44G>T
ENST00000684010.1:n.4096G>T
ENST00000684157.1:n.4101G>T
ENST00000684253.1:n.4004G>T
ENST00000684288.1:c.*2160+44G>T	ENSP00000507143.1:n.*2160+44G>T
ENST00000684313.1:n.3533G>T
ENST00000684332.1:n.4174G>T
ENST00000684371.1:n.4207G>T
ENST00000684404.1:n.4144G>T
ENST00000684442.1:n.4427+44G>T
ENST00000684555.1:c.*2200+44G>T	ENSP00000507705.1:n.*2200+44G>T
ENST00000684571.1:c.3829+44G>T	ENSP00000506935.1:n.3829+44G>T
ENST00000684593.1:c.*3693+44G>T	ENSP00000507005.1:n.*3693+44G>T
ENST00000684711.1:c.*2384+44G>T	ENSP00000506841.1:n.*2384+44G>T
ENST00000302539.9:c.3991+44G>T	ENSP00000303960.4:n.3991+44G>T
ENST00000389817.8:c.3988+44G>T MANE Select	ENSP00000374467.4:n.3988+44G>T
ENST00000642271.1:c.3985+44G>T	ENSP00000493749.1:n.3985+44G>T
ENST00000642579.1:c.2072+44G>T
ENST00000642611.1:n.3986G>T
ENST00000642902.1:c.3770+44G>T
ENST00000643260.1:c.3988+44G>T	ENSP00000494450.1:n.3988+44G>T
ENST00000643562.1:c.*2008G>T	ENSP00000496124.1:n.*2008G>T
ENST00000643925.1:c.2526G>T
ENST00000644484.1:c.*2287G>T	ENSP00000493558.1:n.*2287G>T
ENST00000644675.1:c.*2160+44G>T	ENSP00000494567.1:n.*2160+44G>T
ENST00000644757.1:c.*2317G>T	ENSP00000495085.1:n.*2317G>T
ENST00000644772.1:c.4054+44G>T	ENSP00000494321.1:n.4054+44G>T
ENST00000645004.1:n.1541G>T
ENST00000645076.1:c.3187+44G>T
ENST00000645417.1:c.1176+44G>T
ENST00000645744.1:c.*2666G>T	ENSP00000494564.1:n.*2666G>T
ENST00000645760.1:c.4307G>T
ENST00000645884.1:c.*1169G>T	ENSP00000495516.1:n.*1169G>T
ENST00000646003.1:c.*1988G>T	ENSP00000495259.1:n.*1988G>T
ENST00000646207.1:c.*2825+44G>T	ENSP00000495025.1:n.*2825+44G>T
ENST00000646276.1:c.*2305G>T	ENSP00000496070.1:n.*2305G>T
ENST00000646592.1:c.3294+44G>T
ENST00000646902.1:c.3985+44G>T	ENSP00000494101.1:n.3985+44G>T
ENST00000646993.1:c.*2428G>T	ENSP00000493720.1:n.*2428G>T
ENST00000647013.1:c.3994+44G>T	ENSP00000496741.1:n.3994+44G>T
ENST00000647015.1:c.3739+44G>T	ENSP00000495389.1:n.3739+44G>T
ENST00000647086.1:c.*3604+44G>T	ENSP00000493677.1:n.*3604+44G>T
ENST00000647158.1:c.*2173G>T	ENSP00000495744.1:n.*2173G>T
ENST00000302539.8:c.3991+44G>T	ENSP00000303960.4:n.3991+44G>T
ENST00000389817.7:c.3988+44G>T	ENSP00000374467.3:n.3988+44G>T
ENST00000527905.5:c.*908G>T	ENSP00000431653.1:n.*908G>T
ENST00000528374.1:c.458+44G>T
ENST00000531137.1:n.451G>T
ENST00000531891.1:c.356+44G>T
ENST00000532220.1:n.360G>T
NM_000352.4:c.3988+44G>T	NP_000343.2:n.3988+44G>T
NM_001287174.1:c.3991+44G>T	NP_001274103.1:n.3991+44G>T
XM_011520331.1:c.3988+44G>T	XP_011518633.1:n.3988+44G>T
XM_011520332.1:c.3991+44G>T	XP_011518634.1:n.3991+44G>T
XM_011520333.1:c.2488+44G>T	XP_011518635.1:n.2488+44G>T
XR_930890.1:n.4054+44G>T
NM_001351295.1:c.4054+44G>T	NP_001338224.1:n.4054+44G>T
NM_001351296.1:c.3988+44G>T	NP_001338225.1:n.3988+44G>T
NM_001351297.1:c.3985+44G>T	NP_001338226.1:n.3985+44G>T
NR_147094.1:n.4181G>T
XM_017018197.2:c.4057+44G>T	XP_016873686.1:n.4057+44G>T
XM_017018199.1:c.4054+44G>T	XP_016873688.1:n.4054+44G>T
XM_017018201.2:c.4057+44G>T	XP_016873690.1:n.4057+44G>T
XM_017018202.1:c.2554+44G>T	XP_016873691.1:n.2554+44G>T
XM_017018204.1:c.1945+44G>T	XP_016873693.1:n.1945+44G>T
XM_024448668.1:c.2356+44G>T	XP_024304436.1:n.2356+44G>T
XR_001747945.2:n.4129+44G>T
XR_001747946.2:n.4060+44G>T
XR_002957189.1:n.4623G>T
NM_000352.6:c.3988+44G>T MANE Select	NP_000343.2:n.3988+44G>T
NM_001287174.2:c.3991+44G>T	NP_001274103.1:n.3991+44G>T
NM_001351295.2:c.4054+44G>T	NP_001338224.1:n.4054+44G>T
NM_001351296.2:c.3988+44G>T	NP_001338225.1:n.3988+44G>T
NM_001351297.2:c.3985+44G>T	NP_001338226.1:n.3985+44G>T
NR_147094.2:n.4181G>T
NM_001287174.3:c.3991+44G>T	NP_001274103.1:n.3991+44G>T