Canonical Allele Identifier: CA379781469

Gene: ABCC8

Linked Data

• gnomAD v4: 11-17393112-A-G
• MyVariant Identifiers: chr11:g.17414659A>G (hg19) ; chr11:g.17393112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393112A>G , CM000673.2:g.17393112A>G	GRCh38
NC_000011.9:g.17414659A>G , CM000673.1:g.17414659A>G	GRCh37
NC_000011.8:g.17371235A>G	NCBI36
NG_008867.1:g.88791T>C
NG_012446.1:g.548T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4226T>C
ENST00000526037.6:n.560T>C
ENST00000528374.2:c.1216T>C
ENST00000529967.6:n.2964T>C
ENST00000532220.2:n.3858T>C
ENST00000642611.2:n.5958T>C
ENST00000644057.2:n.1201T>C
ENST00000645004.2:n.2124T>C
ENST00000682051.1:n.4787T>C
ENST00000682110.1:n.4840T>C
ENST00000682140.1:c.*411T>C	ENSP00000507829.1:n.*411T>C
ENST00000682185.1:n.5930T>C
ENST00000682204.1:c.*2763T>C	ENSP00000507094.1:n.*2763T>C
ENST00000682215.1:n.5207T>C
ENST00000682288.1:c.*3056T>C	ENSP00000507506.1:n.*3056T>C
ENST00000682442.1:n.5060T>C
ENST00000682528.1:n.4917T>C
ENST00000682673.1:n.4784T>C
ENST00000682805.1:n.5245T>C
ENST00000682965.1:c.*1047T>C	ENSP00000508229.1:n.*1047T>C
ENST00000683093.1:n.5820T>C
ENST00000683136.1:c.4508T>C	ENSP00000507768.1:p.Ile1503Thr
ENST00000683153.1:n.4882T>C
ENST00000683365.1:n.4942T>C
ENST00000683377.1:n.4736T>C
ENST00000683456.1:c.*1762T>C	ENSP00000508318.1:n.*1762T>C
ENST00000683522.1:n.4922T>C
ENST00000683562.1:c.*2690T>C	ENSP00000508265.1:n.*2690T>C
ENST00000683693.1:n.6301T>C
ENST00000683725.1:c.*90T>C	ENSP00000507496.1:n.*90T>C
ENST00000684010.1:n.4835T>C
ENST00000684014.1:n.812T>C
ENST00000684157.1:n.5825T>C
ENST00000684253.1:n.4743T>C
ENST00000684288.1:c.*2797T>C	ENSP00000507143.1:n.*2797T>C
ENST00000684313.1:n.4272T>C
ENST00000684332.1:n.4913T>C
ENST00000684371.1:n.4946T>C
ENST00000684404.1:n.5868T>C
ENST00000684442.1:n.5064T>C
ENST00000684555.1:c.*2837T>C	ENSP00000507705.1:n.*2837T>C
ENST00000684571.1:c.4466T>C	ENSP00000506935.1:p.Ile1489Thr
ENST00000684593.1:c.*4330T>C	ENSP00000507005.1:n.*4330T>C
ENST00000684711.1:c.*3021T>C	ENSP00000506841.1:n.*3021T>C
ENST00000302539.9:c.4628T>C	ENSP00000303960.4:p.Ile1543Thr
ENST00000389817.8:c.4625T>C MANE Select	ENSP00000374467.4:p.Ile1542Thr
ENST00000642271.1:c.4622T>C	ENSP00000493749.1:p.Ile1541Thr
ENST00000642579.1:c.2679T>C
ENST00000642611.1:n.5843T>C
ENST00000642902.1:c.4407T>C
ENST00000643260.1:c.4625T>C	ENSP00000494450.1:p.Ile1542Thr
ENST00000643562.1:c.*2747T>C	ENSP00000496124.1:n.*2747T>C
ENST00000643925.1:c.3202T>C
ENST00000644057.1:n.784T>C
ENST00000644484.1:c.*4011T>C	ENSP00000493558.1:n.*4011T>C
ENST00000644675.1:c.*2797T>C	ENSP00000494567.1:n.*2797T>C
ENST00000644757.1:c.*3203-132T>C	ENSP00000495085.1:n.*3203-132T>C
ENST00000644772.1:c.4691T>C	ENSP00000494321.1:p.Ile1564Thr
ENST00000645004.1:n.2318T>C
ENST00000645076.1:c.3720T>C
ENST00000645417.1:c.1813T>C
ENST00000645744.1:c.*4310T>C	ENSP00000494564.1:n.*4310T>C
ENST00000645760.1:c.5046T>C
ENST00000645884.1:c.*1908T>C	ENSP00000495516.1:n.*1908T>C
ENST00000646003.1:c.*2647T>C	ENSP00000495259.1:n.*2647T>C
ENST00000646207.1:c.*3462T>C	ENSP00000495025.1:n.*3462T>C
ENST00000646276.1:c.*4029T>C	ENSP00000496070.1:n.*4029T>C
ENST00000646592.1:c.3931T>C
ENST00000646902.1:c.4592T>C	ENSP00000494101.1:p.Ile1531Thr
ENST00000646993.1:c.*3063T>C	ENSP00000493720.1:n.*3063T>C
ENST00000647015.1:c.4376T>C	ENSP00000495389.1:p.Ile1459Thr
ENST00000647086.1:c.*4211T>C	ENSP00000493677.1:n.*4211T>C
ENST00000647158.1:c.*2912T>C	ENSP00000495744.1:n.*2912T>C
ENST00000302539.8:c.4628T>C	ENSP00000303960.4:p.Ile1543Thr
ENST00000389817.7:c.4625T>C	ENSP00000374467.3:p.Ile1542Thr
ENST00000525022.1:n.604T>C
ENST00000526037.5:n.385T>C
ENST00000526168.5:c.413T>C
ENST00000531642.5:c.656T>C
NM_000352.4:c.4625T>C	NP_000343.2:p.Ile1542Thr
NM_001287174.1:c.4628T>C	NP_001274103.1:p.Ile1543Thr
XM_011520331.1:c.4625T>C	XP_011518633.1:p.Ile1542Thr
XM_011520333.1:c.3125T>C	XP_011518635.1:p.Ile1042Thr
XR_930890.1:n.4587T>C
NM_001351295.1:c.4691T>C	NP_001338224.1:p.Ile1564Thr
NM_001351296.1:c.4625T>C	NP_001338225.1:p.Ile1542Thr
NM_001351297.1:c.4622T>C	NP_001338226.1:p.Ile1541Thr
NR_147094.1:n.4920T>C
XM_017018197.2:c.4694T>C	XP_016873686.1:p.Ile1565Thr
XM_017018199.1:c.4691T>C	XP_016873688.1:p.Ile1564Thr
XM_017018202.1:c.3191T>C	XP_016873691.1:p.Ile1064Thr
XM_017018204.1:c.2582T>C	XP_016873693.1:p.Ile861Thr
XM_024448668.1:c.2993T>C	XP_024304436.1:p.Ile998Thr
XR_001747945.2:n.4662T>C
XR_001747946.2:n.4593T>C
XR_002957189.1:n.6376T>C
NM_000352.6:c.4625T>C MANE Select	NP_000343.2:p.Ile1542Thr
NM_001287174.2:c.4628T>C	NP_001274103.1:p.Ile1543Thr
NM_001351295.2:c.4691T>C	NP_001338224.1:p.Ile1564Thr
NM_001351296.2:c.4625T>C	NP_001338225.1:p.Ile1542Thr
NM_001351297.2:c.4622T>C	NP_001338226.1:p.Ile1541Thr
NR_147094.2:n.4920T>C
NM_001287174.3:c.4628T>C	NP_001274103.1:p.Ile1543Thr