Canonical Allele Identifier: CA403612867
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs150201104
gnomAD v2: 19-6679500-G-T
gnomAD v4: 19-6679489-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679489G>T , CM000681.2:g.6679489G>T GRCh38
NC_000019.9:g.6679500G>T , CM000681.1:g.6679500G>T GRCh37
NC_000019.8:g.6630500G>T NCBI36
NG_009557.1:g.46163C>A , LRG_27:g.46163C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2812C>A
ENST00000695653.1:c.2373C>A ENSP00000512084.1:p.Ser791Arg
ENST00000695654.1:c.3489C>A ENSP00000512085.1:p.Ser1163Arg
ENST00000695689.1:c.435C>A ENSP00000512101.1:n.435C>A
ENST00000695690.1:n.1529C>A
ENST00000695691.1:n.1325C>A
ENST00000245907.11:c.4464C>A MANE Select ENSP00000245907.4:p.Ser1488Arg
ENST00000245907.10:c.4464C>A ENSP00000245907.4:p.Ser1488Arg
ENST00000599668.1:n.59C>A
ENST00000599899.5:n.1423C>A
ENST00000601008.1:c.242-1531C>A ENSP00000471384.1:n.242-1531C>A
NM_000064.3:c.4464C>A NP_000055.2:p.Ser1488Arg
NM_000064.4:c.4464C>A MANE Select NP_000055.2:p.Ser1488Arg