Canonical Allele Identifier: CA403619678

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6686203A>C (hg19) ; chr19:g.6686192A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686192A>C , CM000681.2:g.6686192A>C	GRCh38
NC_000019.9:g.6686203A>C , CM000681.1:g.6686203A>C	GRCh37
NC_000019.8:g.6637203A>C	NCBI36
NG_009557.1:g.39460T>G , LRG_27:g.39460T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2090T>G
ENST00000695652.1:c.3619T>G	ENSP00000512083.1:p.Phe1207Val
ENST00000695653.1:c.1651T>G	ENSP00000512084.1:p.Phe551Val
ENST00000695654.1:c.2767T>G	ENSP00000512085.1:p.Phe923Val
ENST00000695655.1:c.2683T>G	ENSP00000512086.1:n.2683T>G
ENST00000695692.1:n.3106T>G
ENST00000245907.11:c.3742T>G MANE Select	ENSP00000245907.4:p.Phe1248Val
ENST00000245907.10:c.3742T>G	ENSP00000245907.4:p.Phe1248Val
ENST00000596238.1:n.185T>G
ENST00000601008.1:c.241+554T>G	ENSP00000471384.1:n.241+554T>G
NM_000064.3:c.3742T>G	NP_000055.2:p.Phe1248Val
NM_000064.4:c.3742T>G MANE Select	NP_000055.2:p.Phe1248Val