Canonical Allele Identifier: CA403612620
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679421C>A , CM000681.2:g.6679421C>A GRCh38
NC_000019.9:g.6679432C>A , CM000681.1:g.6679432C>A GRCh37
NC_000019.8:g.6630432C>A NCBI36
NG_009557.1:g.46231G>T , LRG_27:g.46231G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2880G>T
ENST00000695653.1:c.2441G>T ENSP00000512084.1:p.Cys814Phe
ENST00000695654.1:c.3557G>T ENSP00000512085.1:p.Cys1186Phe
ENST00000695689.1:c.503G>T ENSP00000512101.1:n.503G>T
ENST00000695690.1:n.1597G>T
ENST00000695691.1:n.1393G>T
ENST00000245907.11:c.4532G>T MANE Select ENSP00000245907.4:p.Cys1511Phe
ENST00000245907.10:c.4532G>T ENSP00000245907.4:p.Cys1511Phe
ENST00000599668.1:n.127G>T
ENST00000599899.5:n.1491G>T
ENST00000601008.1:c.242-1463G>T ENSP00000471384.1:n.242-1463G>T
NM_000064.3:c.4532G>T NP_000055.2:p.Cys1511Phe
NM_000064.4:c.4532G>T MANE Select NP_000055.2:p.Cys1511Phe