Canonical Allele Identifier: CA5902433

Gene: ABCC8

Linked Data

• dbSNP Id: rs760952379
• ExAC: 11:17415343 C / G
• gnomAD v2: 11-17415343-C-G
• gnomAD v4: 11-17393796-C-G
• MyVariant Identifiers: chr11:g.17415343C>G (hg19) ; chr11:g.17393796C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393796C>G , CM000673.2:g.17393796C>G	GRCh38
NC_000011.9:g.17415343C>G , CM000673.1:g.17415343C>G	GRCh37
NC_000011.8:g.17371919C>G	NCBI36
NG_008867.1:g.88107G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524561.2:n.4147-37G>C
ENST00000526037.6:n.481-37G>C
ENST00000528374.2:c.1137-37G>C
ENST00000529967.6:n.2885-37G>C
ENST00000532220.2:n.3779-37G>C
ENST00000642611.2:n.5879-37G>C
ENST00000644057.2:n.1122-37G>C
ENST00000645004.2:n.2045-37G>C
ENST00000682051.1:n.4708-37G>C
ENST00000682110.1:n.4761-37G>C
ENST00000682140.1:c.*332-37G>C	ENSP00000507829.1:n.*332-37G>C
ENST00000682185.1:n.5851-37G>C
ENST00000682204.1:c.*2684-37G>C	ENSP00000507094.1:n.*2684-37G>C
ENST00000682215.1:n.5128-37G>C
ENST00000682288.1:c.*2977-37G>C	ENSP00000507506.1:n.*2977-37G>C
ENST00000682442.1:n.4981-37G>C
ENST00000682528.1:n.4838-37G>C
ENST00000682673.1:n.4705-37G>C
ENST00000682805.1:n.5166-37G>C
ENST00000682965.1:c.*968-37G>C	ENSP00000508229.1:n.*968-37G>C
ENST00000683093.1:n.5741-37G>C
ENST00000683136.1:c.4429-37G>C	ENSP00000507768.1:n.4429-37G>C
ENST00000683153.1:n.4803-37G>C
ENST00000683365.1:n.4863-37G>C
ENST00000683377.1:n.4657-37G>C
ENST00000683456.1:c.*1683-37G>C	ENSP00000508318.1:n.*1683-37G>C
ENST00000683522.1:n.4843-37G>C
ENST00000683562.1:c.*2611-37G>C	ENSP00000508265.1:n.*2611-37G>C
ENST00000683693.1:n.6222-37G>C
ENST00000683725.1:c.*11-37G>C	ENSP00000507496.1:n.*11-37G>C
ENST00000684010.1:n.4756-37G>C
ENST00000684014.1:n.733-37G>C
ENST00000684157.1:n.5746-37G>C
ENST00000684253.1:n.4664-37G>C
ENST00000684288.1:c.*2718-37G>C	ENSP00000507143.1:n.*2718-37G>C
ENST00000684313.1:n.4193-37G>C
ENST00000684332.1:n.4834-37G>C
ENST00000684371.1:n.4867-37G>C
ENST00000684404.1:n.5789-37G>C
ENST00000684442.1:n.4985-37G>C
ENST00000684555.1:c.*2758-37G>C	ENSP00000507705.1:n.*2758-37G>C
ENST00000684571.1:c.4387-37G>C	ENSP00000506935.1:n.4387-37G>C
ENST00000684593.1:c.*4251-37G>C	ENSP00000507005.1:n.*4251-37G>C
ENST00000684711.1:c.*2942-37G>C	ENSP00000506841.1:n.*2942-37G>C
ENST00000302539.9:c.4549-37G>C	ENSP00000303960.4:n.4549-37G>C
ENST00000389817.8:c.4546-37G>C MANE Select	ENSP00000374467.4:n.4546-37G>C
ENST00000642271.1:c.4543-37G>C	ENSP00000493749.1:n.4543-37G>C
ENST00000642579.1:c.2600-37G>C
ENST00000642611.1:n.5764-37G>C
ENST00000642902.1:c.4328-37G>C
ENST00000643260.1:c.4546-37G>C	ENSP00000494450.1:n.4546-37G>C
ENST00000643562.1:c.*2668-37G>C	ENSP00000496124.1:n.*2668-37G>C
ENST00000643925.1:c.3185+470G>C
ENST00000644057.1:n.705-37G>C
ENST00000644484.1:c.*3932-37G>C	ENSP00000493558.1:n.*3932-37G>C
ENST00000644675.1:c.*2718-37G>C	ENSP00000494567.1:n.*2718-37G>C
ENST00000644757.1:c.*3203-816G>C	ENSP00000495085.1:n.*3203-816G>C
ENST00000644772.1:c.4612-37G>C	ENSP00000494321.1:n.4612-37G>C
ENST00000645004.1:n.2239-37G>C
ENST00000645076.1:c.3641-37G>C
ENST00000645417.1:c.1734-37G>C
ENST00000645744.1:c.*4231-37G>C	ENSP00000494564.1:n.*4231-37G>C
ENST00000645760.1:c.4967-37G>C
ENST00000645884.1:c.*1829-37G>C	ENSP00000495516.1:n.*1829-37G>C
ENST00000646003.1:c.*2568-37G>C	ENSP00000495259.1:n.*2568-37G>C
ENST00000646207.1:c.*3383-37G>C	ENSP00000495025.1:n.*3383-37G>C
ENST00000646276.1:c.*3950-37G>C	ENSP00000496070.1:n.*3950-37G>C
ENST00000646592.1:c.3852-37G>C
ENST00000646902.1:c.4513-37G>C	ENSP00000494101.1:n.4513-37G>C
ENST00000646993.1:c.*2984-37G>C	ENSP00000493720.1:n.*2984-37G>C
ENST00000647015.1:c.4297-37G>C	ENSP00000495389.1:n.4297-37G>C
ENST00000647086.1:c.*4132-37G>C	ENSP00000493677.1:n.*4132-37G>C
ENST00000647158.1:c.*2833-37G>C	ENSP00000495744.1:n.*2833-37G>C
ENST00000302539.8:c.4549-37G>C	ENSP00000303960.4:n.4549-37G>C
ENST00000389817.7:c.4546-37G>C	ENSP00000374467.3:n.4546-37G>C
ENST00000525022.1:n.441-37G>C
ENST00000526037.5:n.306-37G>C
ENST00000526168.5:c.334-37G>C
ENST00000531642.5:c.577-37G>C
NM_000352.4:c.4546-37G>C	NP_000343.2:n.4546-37G>C
NM_001287174.1:c.4549-37G>C	NP_001274103.1:n.4549-37G>C
XM_011520331.1:c.4546-37G>C	XP_011518633.1:n.4546-37G>C
XM_011520333.1:c.3046-37G>C	XP_011518635.1:n.3046-37G>C
XR_930890.1:n.4508-37G>C
NM_001351295.1:c.4612-37G>C	NP_001338224.1:n.4612-37G>C
NM_001351296.1:c.4546-37G>C	NP_001338225.1:n.4546-37G>C
NM_001351297.1:c.4543-37G>C	NP_001338226.1:n.4543-37G>C
NR_147094.1:n.4841-37G>C
XM_017018197.2:c.4615-37G>C	XP_016873686.1:n.4615-37G>C
XM_017018199.1:c.4612-37G>C	XP_016873688.1:n.4612-37G>C
XM_017018202.1:c.3112-37G>C	XP_016873691.1:n.3112-37G>C
XM_017018204.1:c.2503-37G>C	XP_016873693.1:n.2503-37G>C
XM_024448668.1:c.2914-37G>C	XP_024304436.1:n.2914-37G>C
XR_001747945.2:n.4583-37G>C
XR_001747946.2:n.4514-37G>C
XR_002957189.1:n.6297-37G>C
NM_000352.6:c.4546-37G>C MANE Select	NP_000343.2:n.4546-37G>C
NM_001287174.2:c.4549-37G>C	NP_001274103.1:n.4549-37G>C
NM_001351295.2:c.4612-37G>C	NP_001338224.1:n.4612-37G>C
NM_001351296.2:c.4546-37G>C	NP_001338225.1:n.4546-37G>C
NM_001351297.2:c.4543-37G>C	NP_001338226.1:n.4543-37G>C
NR_147094.2:n.4841-37G>C
NM_001287174.3:c.4549-37G>C	NP_001274103.1:n.4549-37G>C