Canonical Allele Identifier: CA379782065

Gene: ABCC8

Linked Data

• MyVariant Identifiers: chr11:g.17415280C>G (hg19) ; chr11:g.17393733C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17393733C>G , CM000673.2:g.17393733C>G	GRCh38
NC_000011.9:g.17415280C>G , CM000673.1:g.17415280C>G	GRCh37
NC_000011.8:g.17371856C>G	NCBI36
NG_008867.1:g.88170G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.4173G>C
ENST00000526037.6:n.507G>C
ENST00000528374.2:c.1163G>C
ENST00000529967.6:n.2911G>C
ENST00000532220.2:n.3805G>C
ENST00000642611.2:n.5905G>C
ENST00000644057.2:n.1148G>C
ENST00000645004.2:n.2071G>C
ENST00000682051.1:n.4734G>C
ENST00000682110.1:n.4787G>C
ENST00000682140.1:c.*358G>C	ENSP00000507829.1:n.*358G>C
ENST00000682185.1:n.5877G>C
ENST00000682204.1:c.*2710G>C	ENSP00000507094.1:n.*2710G>C
ENST00000682215.1:n.5154G>C
ENST00000682288.1:c.*3003G>C	ENSP00000507506.1:n.*3003G>C
ENST00000682442.1:n.5007G>C
ENST00000682528.1:n.4864G>C
ENST00000682673.1:n.4731G>C
ENST00000682805.1:n.5192G>C
ENST00000682965.1:c.*994G>C	ENSP00000508229.1:n.*994G>C
ENST00000683093.1:n.5767G>C
ENST00000683136.1:c.4455G>C	ENSP00000507768.1:p.Met1485Ile
ENST00000683153.1:n.4829G>C
ENST00000683365.1:n.4889G>C
ENST00000683377.1:n.4683G>C
ENST00000683456.1:c.*1709G>C	ENSP00000508318.1:n.*1709G>C
ENST00000683522.1:n.4869G>C
ENST00000683562.1:c.*2637G>C	ENSP00000508265.1:n.*2637G>C
ENST00000683693.1:n.6248G>C
ENST00000683725.1:c.*37G>C	ENSP00000507496.1:n.*37G>C
ENST00000684010.1:n.4782G>C
ENST00000684014.1:n.759G>C
ENST00000684157.1:n.5772G>C
ENST00000684253.1:n.4690G>C
ENST00000684288.1:c.*2744G>C	ENSP00000507143.1:n.*2744G>C
ENST00000684313.1:n.4219G>C
ENST00000684332.1:n.4860G>C
ENST00000684371.1:n.4893G>C
ENST00000684404.1:n.5815G>C
ENST00000684442.1:n.5011G>C
ENST00000684555.1:c.*2784G>C	ENSP00000507705.1:n.*2784G>C
ENST00000684571.1:c.4413G>C	ENSP00000506935.1:p.Met1471Ile
ENST00000684593.1:c.*4277G>C	ENSP00000507005.1:n.*4277G>C
ENST00000684711.1:c.*2968G>C	ENSP00000506841.1:n.*2968G>C
ENST00000302539.9:c.4575G>C	ENSP00000303960.4:p.Met1525Ile
ENST00000389817.8:c.4572G>C MANE Select	ENSP00000374467.4:p.Met1524Ile
ENST00000642271.1:c.4569G>C	ENSP00000493749.1:p.Met1523Ile
ENST00000642579.1:c.2626G>C
ENST00000642611.1:n.5790G>C
ENST00000642902.1:c.4354G>C
ENST00000643260.1:c.4572G>C	ENSP00000494450.1:p.Met1524Ile
ENST00000643562.1:c.*2694G>C	ENSP00000496124.1:n.*2694G>C
ENST00000643925.1:c.3185+533G>C
ENST00000644057.1:n.731G>C
ENST00000644484.1:c.*3958G>C	ENSP00000493558.1:n.*3958G>C
ENST00000644675.1:c.*2744G>C	ENSP00000494567.1:n.*2744G>C
ENST00000644757.1:c.*3203-753G>C	ENSP00000495085.1:n.*3203-753G>C
ENST00000644772.1:c.4638G>C	ENSP00000494321.1:p.Met1546Ile
ENST00000645004.1:n.2265G>C
ENST00000645076.1:c.3667G>C
ENST00000645417.1:c.1760G>C
ENST00000645744.1:c.*4257G>C	ENSP00000494564.1:n.*4257G>C
ENST00000645760.1:c.4993G>C
ENST00000645884.1:c.*1855G>C	ENSP00000495516.1:n.*1855G>C
ENST00000646003.1:c.*2594G>C	ENSP00000495259.1:n.*2594G>C
ENST00000646207.1:c.*3409G>C	ENSP00000495025.1:n.*3409G>C
ENST00000646276.1:c.*3976G>C	ENSP00000496070.1:n.*3976G>C
ENST00000646592.1:c.3878G>C
ENST00000646902.1:c.4539G>C	ENSP00000494101.1:p.Met1513Ile
ENST00000646993.1:c.*3010G>C	ENSP00000493720.1:n.*3010G>C
ENST00000647015.1:c.4323G>C	ENSP00000495389.1:p.Met1441Ile
ENST00000647086.1:c.*4158G>C	ENSP00000493677.1:n.*4158G>C
ENST00000647158.1:c.*2859G>C	ENSP00000495744.1:n.*2859G>C
ENST00000302539.8:c.4575G>C	ENSP00000303960.4:p.Met1525Ile
ENST00000389817.7:c.4572G>C	ENSP00000374467.3:p.Met1524Ile
ENST00000525022.1:n.467G>C
ENST00000526037.5:n.332G>C
ENST00000526168.5:c.360G>C
ENST00000531642.5:c.603G>C
NM_000352.4:c.4572G>C	NP_000343.2:p.Met1524Ile
NM_001287174.1:c.4575G>C	NP_001274103.1:p.Met1525Ile
XM_011520331.1:c.4572G>C	XP_011518633.1:p.Met1524Ile
XM_011520333.1:c.3072G>C	XP_011518635.1:p.Met1024Ile
XR_930890.1:n.4534G>C
NM_001351295.1:c.4638G>C	NP_001338224.1:p.Met1546Ile
NM_001351296.1:c.4572G>C	NP_001338225.1:p.Met1524Ile
NM_001351297.1:c.4569G>C	NP_001338226.1:p.Met1523Ile
NR_147094.1:n.4867G>C
XM_017018197.2:c.4641G>C	XP_016873686.1:p.Met1547Ile
XM_017018199.1:c.4638G>C	XP_016873688.1:p.Met1546Ile
XM_017018202.1:c.3138G>C	XP_016873691.1:p.Met1046Ile
XM_017018204.1:c.2529G>C	XP_016873693.1:p.Met843Ile
XM_024448668.1:c.2940G>C	XP_024304436.1:p.Met980Ile
XR_001747945.2:n.4609G>C
XR_001747946.2:n.4540G>C
XR_002957189.1:n.6323G>C
NM_000352.6:c.4572G>C MANE Select	NP_000343.2:p.Met1524Ile
NM_001287174.2:c.4575G>C	NP_001274103.1:p.Met1525Ile
NM_001351295.2:c.4638G>C	NP_001338224.1:p.Met1546Ile
NM_001351296.2:c.4572G>C	NP_001338225.1:p.Met1524Ile
NM_001351297.2:c.4569G>C	NP_001338226.1:p.Met1523Ile
NR_147094.2:n.4867G>C
NM_001287174.3:c.4575G>C	NP_001274103.1:p.Met1525Ile