Canonical Allele Identifier: CA379788629

Gene: ABCC8

Linked Data

• dbSNP Id: rs75218493
• gnomAD v2: 11-17417475-G-C
• gnomAD v4: 11-17395928-G-C
• MyVariant Identifiers: chr11:g.17417475G>C (hg19) ; chr11:g.17395928G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17395928G>C , CM000673.2:g.17395928G>C	GRCh38
NC_000011.9:g.17417475G>C , CM000673.1:g.17417475G>C	GRCh37
NC_000011.8:g.17374051G>C	NCBI36
NG_008867.1:g.85975C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524561.2:n.3723C>G
ENST00000528374.2:c.713C>G
ENST00000529967.6:n.2461C>G
ENST00000532220.2:n.3355C>G
ENST00000642611.2:n.5322C>G
ENST00000644057.2:n.565C>G
ENST00000645004.2:n.1621C>G
ENST00000682051.1:n.4284C>G
ENST00000682110.1:n.4337C>G
ENST00000682140.1:c.3988C>G	ENSP00000507829.1:p.Arg1330Gly
ENST00000682185.1:n.5427C>G
ENST00000682204.1:c.*2260C>G	ENSP00000507094.1:n.*2260C>G
ENST00000682215.1:n.4704C>G
ENST00000682288.1:c.*2553C>G	ENSP00000507506.1:n.*2553C>G
ENST00000682442.1:n.4557C>G
ENST00000682528.1:n.4414C>G
ENST00000682673.1:n.4281C>G
ENST00000682805.1:n.4742C>G
ENST00000682965.1:c.*544C>G	ENSP00000508229.1:n.*544C>G
ENST00000683093.1:n.5421C>G
ENST00000683136.1:c.4005C>G	ENSP00000507768.1:p.Ile1335Met
ENST00000683153.1:n.4379C>G
ENST00000683365.1:n.4439C>G
ENST00000683377.1:n.4337C>G
ENST00000683456.1:c.*1259C>G	ENSP00000508318.1:n.*1259C>G
ENST00000683522.1:n.4337C>G
ENST00000683562.1:c.*2291C>G	ENSP00000508265.1:n.*2291C>G
ENST00000683693.1:n.5769C>G
ENST00000683725.1:c.4122C>G	ENSP00000507496.1:p.Ile1374Met
ENST00000684010.1:n.4332C>G
ENST00000684157.1:n.5322C>G
ENST00000684253.1:n.4240C>G
ENST00000684288.1:c.*2294C>G	ENSP00000507143.1:n.*2294C>G
ENST00000684313.1:n.3769C>G
ENST00000684332.1:n.4410C>G
ENST00000684371.1:n.4443C>G
ENST00000684404.1:n.5365C>G
ENST00000684442.1:n.4561C>G
ENST00000684555.1:c.*2334C>G	ENSP00000507705.1:n.*2334C>G
ENST00000684571.1:c.3963C>G	ENSP00000506935.1:p.Ile1321Met
ENST00000684593.1:c.*3827C>G	ENSP00000507005.1:n.*3827C>G
ENST00000684711.1:c.*2518C>G	ENSP00000506841.1:n.*2518C>G
ENST00000302539.9:c.4125C>G	ENSP00000303960.4:p.Ile1375Met
ENST00000389817.8:c.4122C>G MANE Select	ENSP00000374467.4:p.Ile1374Met
ENST00000642271.1:c.4119C>G	ENSP00000493749.1:p.Ile1373Met
ENST00000642579.1:c.2176C>G
ENST00000642611.1:n.5207C>G
ENST00000642902.1:c.3904C>G
ENST00000643260.1:c.4122C>G	ENSP00000494450.1:p.Ile1374Met
ENST00000643562.1:c.*2244C>G	ENSP00000496124.1:n.*2244C>G
ENST00000643925.1:c.2762C>G
ENST00000644057.1:n.199C>G
ENST00000644484.1:c.*3508C>G	ENSP00000493558.1:n.*3508C>G
ENST00000644675.1:c.*2294C>G	ENSP00000494567.1:n.*2294C>G
ENST00000644757.1:c.*3202+336C>G	ENSP00000495085.1:n.*3202+336C>G
ENST00000644772.1:c.4188C>G	ENSP00000494321.1:p.Ile1396Met
ENST00000645004.1:n.1815C>G
ENST00000645076.1:c.3321C>G
ENST00000645417.1:c.1310C>G
ENST00000645744.1:c.*3887C>G	ENSP00000494564.1:n.*3887C>G
ENST00000645760.1:c.4543C>G
ENST00000645884.1:c.*1405C>G	ENSP00000495516.1:n.*1405C>G
ENST00000646003.1:c.*2224C>G	ENSP00000495259.1:n.*2224C>G
ENST00000646207.1:c.*2959C>G	ENSP00000495025.1:n.*2959C>G
ENST00000646276.1:c.*3526C>G	ENSP00000496070.1:n.*3526C>G
ENST00000646592.1:c.3428C>G
ENST00000646902.1:c.4089C>G	ENSP00000494101.1:p.Ile1363Met
ENST00000646993.1:c.*2664C>G	ENSP00000493720.1:n.*2664C>G
ENST00000647013.1:c.4128C>G	ENSP00000496741.1:n.4128C>G
ENST00000647015.1:c.3873C>G	ENSP00000495389.1:p.Ile1291Met
ENST00000647086.1:c.*3708C>G	ENSP00000493677.1:n.*3708C>G
ENST00000647158.1:c.*2409C>G	ENSP00000495744.1:n.*2409C>G
ENST00000302539.8:c.4125C>G	ENSP00000303960.4:p.Ile1375Met
ENST00000389817.7:c.4122C>G	ENSP00000374467.3:p.Ile1374Met
ENST00000528374.1:c.604C>G
ENST00000532220.1:n.596C>G
NM_000352.4:c.4122C>G	NP_000343.2:p.Ile1374Met
NM_001287174.1:c.4125C>G	NP_001274103.1:p.Ile1375Met
XM_011520331.1:c.4122C>G	XP_011518633.1:p.Ile1374Met
XM_011520332.1:c.4125C>G	XP_011518634.1:p.Ile1375Met
XM_011520333.1:c.2622C>G	XP_011518635.1:p.Ile874Met
XR_930890.1:n.4188C>G
NM_001351295.1:c.4188C>G	NP_001338224.1:p.Ile1396Met
NM_001351296.1:c.4122C>G	NP_001338225.1:p.Ile1374Met
NM_001351297.1:c.4119C>G	NP_001338226.1:p.Ile1373Met
NR_147094.1:n.4417C>G
XM_017018197.2:c.4191C>G	XP_016873686.1:p.Ile1397Met
XM_017018199.1:c.4188C>G	XP_016873688.1:p.Ile1396Met
XM_017018201.2:c.4191C>G	XP_016873690.1:p.Ile1397Met
XM_017018202.1:c.2688C>G	XP_016873691.1:p.Ile896Met
XM_017018204.1:c.2079C>G	XP_016873693.1:p.Ile693Met
XM_024448668.1:c.2490C>G	XP_024304436.1:p.Ile830Met
XR_001747945.2:n.4263C>G
XR_001747946.2:n.4194C>G
XR_002957189.1:n.5844C>G
NM_000352.6:c.4122C>G MANE Select	NP_000343.2:p.Ile1374Met
NM_001287174.2:c.4125C>G	NP_001274103.1:p.Ile1375Met
NM_001351295.2:c.4188C>G	NP_001338224.1:p.Ile1396Met
NM_001351296.2:c.4122C>G	NP_001338225.1:p.Ile1374Met
NM_001351297.2:c.4119C>G	NP_001338226.1:p.Ile1373Met
NR_147094.2:n.4417C>G
NM_001287174.3:c.4125C>G	NP_001274103.1:p.Ile1375Met