Canonical Allele Identifier: CA403643135

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6714194A>T (hg19) ; chr19:g.6714183A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714183A>T , CM000681.2:g.6714183A>T	GRCh38
NC_000019.9:g.6714194A>T , CM000681.1:g.6714194A>T	GRCh37
NC_000019.8:g.6665194A>T	NCBI36
NG_009557.1:g.11469T>A , LRG_27:g.11469T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.542T>A	ENSP00000512083.1:p.Phe181Tyr
ENST00000245907.11:c.665T>A MANE Select	ENSP00000245907.4:p.Phe222Tyr
ENST00000245907.10:c.665T>A	ENSP00000245907.4:p.Phe222Tyr
ENST00000595577.1:n.169T>A
NM_000064.3:c.665T>A	NP_000055.2:p.Phe222Tyr
NM_000064.4:c.665T>A MANE Select	NP_000055.2:p.Phe222Tyr