Canonical Allele Identifier: CA403642215

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6713278C>G (hg19) ; chr19:g.6713267C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713267C>G , CM000681.2:g.6713267C>G	GRCh38
NC_000019.9:g.6713278C>G , CM000681.1:g.6713278C>G	GRCh37
NC_000019.8:g.6664278C>G	NCBI36
NG_009557.1:g.12385G>C , LRG_27:g.12385G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.802G>C	ENSP00000512083.1:p.Asp268His
ENST00000695654.1:c.49G>C	ENSP00000512085.1:p.Asp17His
ENST00000695692.1:n.249G>C
ENST00000245907.11:c.925G>C MANE Select	ENSP00000245907.4:p.Asp309His
ENST00000245907.10:c.925G>C	ENSP00000245907.4:p.Asp309His
ENST00000594270.5:n.49G>C
ENST00000595577.1:n.429G>C
ENST00000597442.5:n.175G>C
NM_000064.3:c.925G>C	NP_000055.2:p.Asp309His
NM_000064.4:c.925G>C MANE Select	NP_000055.2:p.Asp309His