Canonical Allele Identifier: CA403618695
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6685145-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6685145G>T , CM000681.2:g.6685145G>T GRCh38
NC_000019.9:g.6685156G>T , CM000681.1:g.6685156G>T GRCh37
NC_000019.8:g.6636156G>T NCBI36
NG_009557.1:g.40507C>A , LRG_27:g.40507C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2160C>A
ENST00000695653.1:c.1721C>A ENSP00000512084.1:p.Ala574Asp
ENST00000695654.1:c.2837C>A ENSP00000512085.1:p.Ala946Asp
ENST00000695690.1:n.3C>A
ENST00000695691.1:n.3C>A
ENST00000245907.11:c.3812C>A MANE Select ENSP00000245907.4:p.Ala1271Asp
ENST00000245907.10:c.3812C>A ENSP00000245907.4:p.Ala1271Asp
ENST00000596238.1:n.255C>A
ENST00000601008.1:c.241+1601C>A ENSP00000471384.1:n.241+1601C>A
NM_000064.3:c.3812C>A NP_000055.2:p.Ala1271Asp
NM_000064.4:c.3812C>A MANE Select NP_000055.2:p.Ala1271Asp