Canonical Allele Identifier: CA874926
Gene: C8A HGNC NCBI
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56867663G>A , CM000663.2:g.56867663G>A GRCh38
NC_000001.10:g.57333336G>A , CM000663.1:g.57333336G>A GRCh37
NC_000001.9:g.57105924G>A NCBI36
NG_012049.1:g.17894G>A , LRG_139:g.17894G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695676.1:n.266G>A
ENST00000695677.1:c.132G>A ENSP00000512097.1:p.Trp44Ter
ENST00000695678.1:c.132G>A ENSP00000512098.1:p.Trp44Ter
ENST00000695679.1:c.132G>A ENSP00000512099.1:p.Trp44Ter
ENST00000695680.1:n.238G>A
ENST00000695681.1:c.132G>A ENSP00000512100.1:p.Trp44Ter
ENST00000695682.1:n.226G>A
ENST00000695683.1:n.216G>A
ENST00000695684.1:n.83G>A
ENST00000695685.1:n.83G>A
ENST00000695723.1:c.132G>A ENSP00000512121.1:p.Trp44Ter
ENST00000361249.4:c.132G>A MANE Select ENSP00000354458.3:p.Trp44Ter
ENST00000361249.3:c.132G>A ENSP00000354458.3:p.Trp44Ter
NM_000562.2:c.132G>A , LRG_139t1:c.132G>A NP_000553.1:p.Trp44Ter
XM_011542079.1:c.132G>A XP_011540381.1:p.Trp44Ter
XM_011542079.2:c.132G>A XP_011540381.1:p.Trp44Ter
XM_017002234.1:c.132G>A XP_016857723.1:p.Trp44Ter
NM_000562.3:c.132G>A MANE Select NP_000553.1:p.Trp44Ter