Canonical Allele Identifier: CA403645091

Gene: C3

Linked Data

• MyVariant Identifiers: chr19:g.6718292C>A (hg19) ; chr19:g.6718281C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6718281C>A , CM000681.2:g.6718281C>A	GRCh38
NC_000019.9:g.6718292C>A , CM000681.1:g.6718292C>A	GRCh37
NC_000019.8:g.6669292C>A	NCBI36
NG_009557.1:g.7371G>T , LRG_27:g.7371G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000594936.2:n.460G>T
ENST00000695652.1:c.276G>T	ENSP00000512083.1:p.Gln92His
ENST00000695693.1:c.399G>T	ENSP00000512104.1:p.Gln133His
ENST00000245907.11:c.399G>T MANE Select	ENSP00000245907.4:p.Gln133His
ENST00000245907.10:c.399G>T	ENSP00000245907.4:p.Gln133His
ENST00000594936.1:n.460G>T
ENST00000600744.1:c.276G>T	ENSP00000472044.1:p.Gln92His
NM_000064.3:c.399G>T	NP_000055.2:p.Gln133His
NM_000064.4:c.399G>T MANE Select	NP_000055.2:p.Gln133His