Canonical Allele Identifier: CA403619619

Gene: C3

Linked Data

• dbSNP Id: rs149007163
• MyVariant Identifiers: chr19:g.6686193G>T (hg19) ; chr19:g.6686182G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686182G>T , CM000681.2:g.6686182G>T	GRCh38
NC_000019.9:g.6686193G>T , CM000681.1:g.6686193G>T	GRCh37
NC_000019.8:g.6637193G>T	NCBI36
NG_009557.1:g.39470C>A , LRG_27:g.39470C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2100C>A
ENST00000695652.1:c.3629C>A	ENSP00000512083.1:p.Pro1210His
ENST00000695653.1:c.1661C>A	ENSP00000512084.1:p.Pro554His
ENST00000695654.1:c.2777C>A	ENSP00000512085.1:p.Pro926His
ENST00000695655.1:c.2693C>A	ENSP00000512086.1:n.2693C>A
ENST00000695692.1:n.3116C>A
ENST00000245907.11:c.3752C>A MANE Select	ENSP00000245907.4:p.Pro1251His
ENST00000245907.10:c.3752C>A	ENSP00000245907.4:p.Pro1251His
ENST00000596238.1:n.195C>A
ENST00000601008.1:c.241+564C>A	ENSP00000471384.1:n.241+564C>A
NM_000064.3:c.3752C>A	NP_000055.2:p.Pro1251His
NM_000064.4:c.3752C>A MANE Select	NP_000055.2:p.Pro1251His