Canonical Allele Identifier: CA597904447

Gene: ABCC8

Linked Data

• dbSNP Id: rs1200431806
• gnomAD v2: 11-17418691-A-G
• gnomAD v3: 11-17397144-A-G
• gnomAD v4: 11-17397144-A-G
• MyVariant Identifiers: chr11:g.17418691A>G (hg19) ; chr11:g.17397144A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17397144A>G , CM000673.2:g.17397144A>G	GRCh38
NC_000011.9:g.17418691A>G , CM000673.1:g.17418691A>G	GRCh37
NC_000011.8:g.17375267A>G	NCBI36
NG_008867.1:g.84759T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3492T>C
ENST00000528374.2:c.567+49T>C
ENST00000529967.6:n.2327+49T>C
ENST00000532220.2:n.2139T>C
ENST00000642611.2:n.4106T>C
ENST00000644057.2:n.431+49T>C
ENST00000645004.2:n.1487+49T>C
ENST00000682051.1:n.4053T>C
ENST00000682110.1:n.4106T>C
ENST00000682140.1:c.3985+49T>C	ENSP00000507829.1:n.3985+49T>C
ENST00000682185.1:n.5293+49T>C
ENST00000682204.1:c.*2126+49T>C	ENSP00000507094.1:n.*2126+49T>C
ENST00000682215.1:n.4473T>C
ENST00000682288.1:c.*2419+49T>C	ENSP00000507506.1:n.*2419+49T>C
ENST00000682442.1:n.4326T>C
ENST00000682528.1:n.4183T>C
ENST00000682673.1:n.4050T>C
ENST00000682805.1:n.4473T>C
ENST00000682965.1:c.*410+49T>C	ENSP00000508229.1:n.*410+49T>C
ENST00000683093.1:n.4205T>C
ENST00000683136.1:c.3871+49T>C	ENSP00000507768.1:n.3871+49T>C
ENST00000683153.1:n.4148T>C
ENST00000683365.1:n.4208T>C
ENST00000683377.1:n.4106T>C
ENST00000683456.1:c.*1125+49T>C	ENSP00000508318.1:n.*1125+49T>C
ENST00000683522.1:n.4106T>C
ENST00000683562.1:c.*2157+49T>C	ENSP00000508265.1:n.*2157+49T>C
ENST00000683693.1:n.4553T>C
ENST00000683725.1:c.3988+49T>C	ENSP00000507496.1:n.3988+49T>C
ENST00000684010.1:n.4101T>C
ENST00000684157.1:n.4106T>C
ENST00000684253.1:n.4009T>C
ENST00000684288.1:c.*2160+49T>C	ENSP00000507143.1:n.*2160+49T>C
ENST00000684313.1:n.3538T>C
ENST00000684332.1:n.4179T>C
ENST00000684371.1:n.4212T>C
ENST00000684404.1:n.4149T>C
ENST00000684442.1:n.4427+49T>C
ENST00000684555.1:c.*2200+49T>C	ENSP00000507705.1:n.*2200+49T>C
ENST00000684571.1:c.3829+49T>C	ENSP00000506935.1:n.3829+49T>C
ENST00000684593.1:c.*3693+49T>C	ENSP00000507005.1:n.*3693+49T>C
ENST00000684711.1:c.*2384+49T>C	ENSP00000506841.1:n.*2384+49T>C
ENST00000302539.9:c.3991+49T>C	ENSP00000303960.4:n.3991+49T>C
ENST00000389817.8:c.3988+49T>C MANE Select	ENSP00000374467.4:n.3988+49T>C
ENST00000642271.1:c.3985+49T>C	ENSP00000493749.1:n.3985+49T>C
ENST00000642579.1:c.2072+49T>C
ENST00000642611.1:n.3991T>C
ENST00000642902.1:c.3770+49T>C
ENST00000643260.1:c.3988+49T>C	ENSP00000494450.1:n.3988+49T>C
ENST00000643562.1:c.*2013T>C	ENSP00000496124.1:n.*2013T>C
ENST00000643925.1:c.2531T>C
ENST00000644484.1:c.*2292T>C	ENSP00000493558.1:n.*2292T>C
ENST00000644675.1:c.*2160+49T>C	ENSP00000494567.1:n.*2160+49T>C
ENST00000644757.1:c.*2322T>C	ENSP00000495085.1:n.*2322T>C
ENST00000644772.1:c.4054+49T>C	ENSP00000494321.1:n.4054+49T>C
ENST00000645004.1:n.1546T>C
ENST00000645076.1:c.3187+49T>C
ENST00000645417.1:c.1176+49T>C
ENST00000645744.1:c.*2671T>C	ENSP00000494564.1:n.*2671T>C
ENST00000645760.1:c.4312T>C
ENST00000645884.1:c.*1174T>C	ENSP00000495516.1:n.*1174T>C
ENST00000646003.1:c.*1993T>C	ENSP00000495259.1:n.*1993T>C
ENST00000646207.1:c.*2825+49T>C	ENSP00000495025.1:n.*2825+49T>C
ENST00000646276.1:c.*2310T>C	ENSP00000496070.1:n.*2310T>C
ENST00000646592.1:c.3294+49T>C
ENST00000646902.1:c.3985+49T>C	ENSP00000494101.1:n.3985+49T>C
ENST00000646993.1:c.*2433T>C	ENSP00000493720.1:n.*2433T>C
ENST00000647013.1:c.3994+49T>C	ENSP00000496741.1:n.3994+49T>C
ENST00000647015.1:c.3739+49T>C	ENSP00000495389.1:n.3739+49T>C
ENST00000647086.1:c.*3604+49T>C	ENSP00000493677.1:n.*3604+49T>C
ENST00000647158.1:c.*2178T>C	ENSP00000495744.1:n.*2178T>C
ENST00000302539.8:c.3991+49T>C	ENSP00000303960.4:n.3991+49T>C
ENST00000389817.7:c.3988+49T>C	ENSP00000374467.3:n.3988+49T>C
ENST00000527905.5:c.*913T>C	ENSP00000431653.1:n.*913T>C
ENST00000528374.1:c.458+49T>C
ENST00000531137.1:n.456T>C
ENST00000531891.1:c.356+49T>C
ENST00000532220.1:n.365T>C
NM_000352.4:c.3988+49T>C	NP_000343.2:n.3988+49T>C
NM_001287174.1:c.3991+49T>C	NP_001274103.1:n.3991+49T>C
XM_011520331.1:c.3988+49T>C	XP_011518633.1:n.3988+49T>C
XM_011520332.1:c.3991+49T>C	XP_011518634.1:n.3991+49T>C
XM_011520333.1:c.2488+49T>C	XP_011518635.1:n.2488+49T>C
XR_930890.1:n.4054+49T>C
NM_001351295.1:c.4054+49T>C	NP_001338224.1:n.4054+49T>C
NM_001351296.1:c.3988+49T>C	NP_001338225.1:n.3988+49T>C
NM_001351297.1:c.3985+49T>C	NP_001338226.1:n.3985+49T>C
NR_147094.1:n.4186T>C
XM_017018197.2:c.4057+49T>C	XP_016873686.1:n.4057+49T>C
XM_017018199.1:c.4054+49T>C	XP_016873688.1:n.4054+49T>C
XM_017018201.2:c.4057+49T>C	XP_016873690.1:n.4057+49T>C
XM_017018202.1:c.2554+49T>C	XP_016873691.1:n.2554+49T>C
XM_017018204.1:c.1945+49T>C	XP_016873693.1:n.1945+49T>C
XM_024448668.1:c.2356+49T>C	XP_024304436.1:n.2356+49T>C
XR_001747945.2:n.4129+49T>C
XR_001747946.2:n.4060+49T>C
XR_002957189.1:n.4628T>C
NM_000352.6:c.3988+49T>C MANE Select	NP_000343.2:n.3988+49T>C
NM_001287174.2:c.3991+49T>C	NP_001274103.1:n.3991+49T>C
NM_001351295.2:c.4054+49T>C	NP_001338224.1:n.4054+49T>C
NM_001351296.2:c.3988+49T>C	NP_001338225.1:n.3988+49T>C
NM_001351297.2:c.3985+49T>C	NP_001338226.1:n.3985+49T>C
NR_147094.2:n.4186T>C
NM_001287174.3:c.3991+49T>C	NP_001274103.1:n.3991+49T>C