Canonical Allele Identifier: CA403612843
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679477G>T , CM000681.2:g.6679477G>T GRCh38
NC_000019.9:g.6679488G>T , CM000681.1:g.6679488G>T GRCh37
NC_000019.8:g.6630488G>T NCBI36
NG_009557.1:g.46175C>A , LRG_27:g.46175C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2824C>A
ENST00000695653.1:c.2385C>A ENSP00000512084.1:p.Phe795Leu
ENST00000695654.1:c.3501C>A ENSP00000512085.1:p.Phe1167Leu
ENST00000695689.1:c.447C>A ENSP00000512101.1:n.447C>A
ENST00000695690.1:n.1541C>A
ENST00000695691.1:n.1337C>A
ENST00000245907.11:c.4476C>A MANE Select ENSP00000245907.4:p.Phe1492Leu
ENST00000245907.10:c.4476C>A ENSP00000245907.4:p.Phe1492Leu
ENST00000599668.1:n.71C>A
ENST00000599899.5:n.1435C>A
ENST00000601008.1:c.242-1519C>A ENSP00000471384.1:n.242-1519C>A
NM_000064.3:c.4476C>A NP_000055.2:p.Phe1492Leu
NM_000064.4:c.4476C>A MANE Select NP_000055.2:p.Phe1492Leu