Canonical Allele Identifier: CA403643487

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6714413C>A (hg19) ; chr19:g.6714402C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714402C>A , CM000681.2:g.6714402C>A	GRCh38
NC_000019.9:g.6714413C>A , CM000681.1:g.6714413C>A	GRCh37
NC_000019.8:g.6665413C>A	NCBI36
NG_009557.1:g.11250G>T , LRG_27:g.11250G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.426G>T	ENSP00000512083.1:p.Gln142His
ENST00000245907.11:c.549G>T MANE Select	ENSP00000245907.4:p.Gln183His
ENST00000245907.10:c.549G>T	ENSP00000245907.4:p.Gln183His
NM_000064.3:c.549G>T	NP_000055.2:p.Gln183His
NM_000064.4:c.549G>T MANE Select	NP_000055.2:p.Gln183His