Canonical Allele Identifier: CA403612795

Gene: C3

Linked Data

• dbSNP Id: rs1157359598
• gnomAD v2: 19-6679469-C-T
• gnomAD v3: 19-6679458-C-T
• gnomAD v4: 19-6679458-C-T
• COSMIC: COSM4986072
• MyVariant Identifiers: chr19:g.6679469C>T (hg19) ; chr19:g.6679458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679458C>T , CM000681.2:g.6679458C>T	GRCh38
NC_000019.9:g.6679469C>T , CM000681.1:g.6679469C>T	GRCh37
NC_000019.8:g.6630469C>T	NCBI36
NG_009557.1:g.46194G>A , LRG_27:g.46194G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2843G>A
ENST00000695653.1:c.2404G>A	ENSP00000512084.1:p.Asp802Asn
ENST00000695654.1:c.3520G>A	ENSP00000512085.1:p.Asp1174Asn
ENST00000695689.1:c.466G>A	ENSP00000512101.1:n.466G>A
ENST00000695690.1:n.1560G>A
ENST00000695691.1:n.1356G>A
ENST00000245907.11:c.4495G>A MANE Select	ENSP00000245907.4:p.Asp1499Asn
ENST00000245907.10:c.4495G>A	ENSP00000245907.4:p.Asp1499Asn
ENST00000599668.1:n.90G>A
ENST00000599899.5:n.1454G>A
ENST00000601008.1:c.242-1500G>A	ENSP00000471384.1:n.242-1500G>A
NM_000064.3:c.4495G>A	NP_000055.2:p.Asp1499Asn
NM_000064.4:c.4495G>A MANE Select	NP_000055.2:p.Asp1499Asn