Canonical Allele Identifier: CA403619617

Gene: C3

Linked Data

• dbSNP Id: rs149007163
• gnomAD v2: 19-6686193-G-C
• gnomAD v4: 19-6686182-G-C
• MyVariant Identifiers: chr19:g.6686193G>C (hg19) ; chr19:g.6686182G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2100C>G
ENST00000695652.1:c.3629C>G	ENSP00000512083.1:p.Pro1210Arg
ENST00000695653.1:c.1661C>G	ENSP00000512084.1:p.Pro554Arg
ENST00000695654.1:c.2777C>G	ENSP00000512085.1:p.Pro926Arg
ENST00000695655.1:c.2693C>G	ENSP00000512086.1:n.2693C>G
ENST00000695692.1:n.3116C>G
ENST00000245907.11:c.3752C>G MANE Select	ENSP00000245907.4:p.Pro1251Arg
ENST00000245907.10:c.3752C>G	ENSP00000245907.4:p.Pro1251Arg
ENST00000596238.1:n.195C>G
ENST00000601008.1:c.241+564C>G	ENSP00000471384.1:n.241+564C>G
NM_000064.3:c.3752C>G	NP_000055.2:p.Pro1251Arg
NM_000064.4:c.3752C>G MANE Select	NP_000055.2:p.Pro1251Arg