Canonical Allele Identifier: CA8042963

Gene: ABCC11

Linked Data

• dbSNP Id: rs751630465
• ExAC: 16:48201502 G / C
• gnomAD v2: 16-48201502-G-C
• gnomAD v4: 16-48167591-G-C
• MyVariant Identifiers: chr16:g.48201502G>C (hg19) ; chr16:g.48167591G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.48167591G>C , CM000678.2:g.48167591G>C	GRCh38
NC_000016.9:g.48201502G>C , CM000678.1:g.48201502G>C	GRCh37
NC_000016.8:g.46759003G>C	NCBI36
NG_011522.1:g.72587C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356608.7:c.3961C>G MANE Select	ENSP00000349017.2:p.Arg1321Gly
ENST00000353782.9:c.3847C>G	ENSP00000311326.6:p.Arg1283Gly
ENST00000356608.6:c.3961C>G	ENSP00000349017.2:p.Arg1321Gly
ENST00000394747.5:c.3961C>G	ENSP00000378230.1:p.Arg1321Gly
ENST00000394748.5:c.3961C>G	ENSP00000378231.1:p.Arg1321Gly
ENST00000565329.1:n.1261C>G
NM_032583.3:c.3961C>G	NP_115972.2:p.Arg1321Gly
NM_033151.3:c.3961C>G	NP_149163.2:p.Arg1321Gly
NM_145186.2:c.3847C>G	NP_660187.1:p.Arg1283Gly
XM_011523396.1:c.3763C>G	XP_011521698.1:p.Arg1255Gly
XM_011523397.1:c.3004C>G	XP_011521699.1:p.Arg1002Gly
XM_011523398.1:c.2092C>G	XP_011521700.1:p.Arg698Gly
XM_011523397.2:c.3004C>G	XP_011521699.1:p.Arg1002Gly
XM_011523398.3:c.2092C>G	XP_011521700.1:p.Arg698Gly
XM_017023795.2:c.3961C>G	XP_016879284.1:p.Arg1321Gly
XM_017023796.2:c.3961C>G	XP_016879285.1:p.Arg1321Gly
XM_017023797.2:c.3961C>G	XP_016879286.1:p.Arg1321Gly
XM_017023798.2:c.3961C>G	XP_016879287.1:p.Arg1321Gly
XM_017023799.2:c.3961C>G	XP_016879288.1:p.Arg1321Gly
XM_017023800.2:c.3961C>G	XP_016879289.1:p.Arg1321Gly
XM_017023801.2:c.3853C>G	XP_016879290.1:p.Arg1285Gly
XM_017023802.2:c.3004C>G	XP_016879291.1:p.Arg1002Gly
XM_024450475.1:c.3004C>G	XP_024306243.1:p.Arg1002Gly
XR_001752012.1:n.6639C>G
NM_001370496.1:c.3967C>G	NP_001357425.1:p.Arg1323Gly
NM_001370497.1:c.3961C>G MANE Select	NP_001357426.1:p.Arg1321Gly
NM_032583.4:c.3961C>G	NP_115972.2:p.Arg1321Gly
NM_033151.4:c.3961C>G	NP_149163.2:p.Arg1321Gly
NM_145186.3:c.3847C>G	NP_660187.1:p.Arg1283Gly