Canonical Allele Identifier: CA403612559

Gene: C3

Linked Data

• gnomAD v4: 19-6679412-G-T
• MyVariant Identifiers: chr19:g.6679423G>T (hg19) ; chr19:g.6679412G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679412G>T , CM000681.2:g.6679412G>T	GRCh38
NC_000019.9:g.6679423G>T , CM000681.1:g.6679423G>T	GRCh37
NC_000019.8:g.6630423G>T	NCBI36
NG_009557.1:g.46240C>A , LRG_27:g.46240C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2889C>A
ENST00000695653.1:c.2450C>A	ENSP00000512084.1:p.Ala817Asp
ENST00000695654.1:c.3566C>A	ENSP00000512085.1:p.Ala1189Asp
ENST00000695689.1:c.512C>A	ENSP00000512101.1:n.512C>A
ENST00000695690.1:n.1606C>A
ENST00000695691.1:n.1402C>A
ENST00000245907.11:c.4541C>A MANE Select	ENSP00000245907.4:p.Ala1514Asp
ENST00000245907.10:c.4541C>A	ENSP00000245907.4:p.Ala1514Asp
ENST00000599668.1:n.136C>A
ENST00000599899.5:n.1500C>A
ENST00000601008.1:c.242-1454C>A	ENSP00000471384.1:n.242-1454C>A
NM_000064.3:c.4541C>A	NP_000055.2:p.Ala1514Asp
NM_000064.4:c.4541C>A MANE Select	NP_000055.2:p.Ala1514Asp