Canonical Allele Identifier: CA403615603

Gene: C3

Linked Data

• dbSNP Id: rs1917883325
• MyVariant Identifiers: chr19:g.6682239A>G (hg19) ; chr19:g.6682228A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6682228A>G , CM000681.2:g.6682228A>G	GRCh38
NC_000019.9:g.6682239A>G , CM000681.1:g.6682239A>G	GRCh37
NC_000019.8:g.6633239A>G	NCBI36
NG_009557.1:g.43424T>C , LRG_27:g.43424T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2522T>C
ENST00000695653.1:c.2083T>C	ENSP00000512084.1:p.Tyr695His
ENST00000695654.1:c.3199T>C	ENSP00000512085.1:p.Tyr1067His
ENST00000695689.1:c.145T>C	ENSP00000512101.1:n.145T>C
ENST00000695690.1:n.365T>C
ENST00000695691.1:n.365T>C
ENST00000245907.11:c.4174T>C MANE Select	ENSP00000245907.4:p.Tyr1392His
ENST00000245907.10:c.4174T>C	ENSP00000245907.4:p.Tyr1392His
ENST00000596548.1:c.295T>C	ENSP00000469744.1:p.Tyr99His
ENST00000599899.5:n.1133T>C
ENST00000601008.1:c.242-4270T>C	ENSP00000471384.1:n.242-4270T>C
NM_000064.3:c.4174T>C	NP_000055.2:p.Tyr1392His
NM_000064.4:c.4174T>C MANE Select	NP_000055.2:p.Tyr1392His