Canonical Allele Identifier: CA403611964

Gene: C3

Linked Data

• gnomAD v4: 19-6679127-T-C
• COSMIC: COSM309717
• MyVariant Identifiers: chr19:g.6679138T>C (hg19) ; chr19:g.6679127T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6679127T>C , CM000681.2:g.6679127T>C	GRCh38
NC_000019.9:g.6679138T>C , CM000681.1:g.6679138T>C	GRCh37
NC_000019.8:g.6630138T>C	NCBI36
NG_009557.1:g.46525A>G , LRG_27:g.46525A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2976A>G
ENST00000695653.1:c.2537A>G	ENSP00000512084.1:p.Tyr846Cys
ENST00000695654.1:c.3653A>G	ENSP00000512085.1:p.Tyr1218Cys
ENST00000695689.1:c.599A>G	ENSP00000512101.1:n.599A>G
ENST00000695690.1:n.1693A>G
ENST00000695691.1:n.1489A>G
ENST00000245907.11:c.4628A>G MANE Select	ENSP00000245907.4:p.Tyr1543Cys
ENST00000245907.10:c.4628A>G	ENSP00000245907.4:p.Tyr1543Cys
ENST00000599668.1:n.248A>G
ENST00000599899.5:n.1587A>G
ENST00000601008.1:c.242-1169A>G	ENSP00000471384.1:n.242-1169A>G
ENST00000602229.1:c.75A>G
NM_000064.3:c.4628A>G	NP_000055.2:p.Tyr1543Cys
NM_000064.4:c.4628A>G MANE Select	NP_000055.2:p.Tyr1543Cys