Canonical Allele Identifier: CA9128648

Gene: C3

Linked Data

• dbSNP Id: rs149007163
• ExAC: 19:6686193 G / A
• gnomAD v2: 19-6686193-G-A
• gnomAD v4: 19-6686182-G-A
• COSMIC: COSM107217
• MyVariant Identifiers: chr19:g.6686193G>A (hg19) ; chr19:g.6686182G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2100C>T
ENST00000695652.1:c.3629C>T	ENSP00000512083.1:p.Pro1210Leu
ENST00000695653.1:c.1661C>T	ENSP00000512084.1:p.Pro554Leu
ENST00000695654.1:c.2777C>T	ENSP00000512085.1:p.Pro926Leu
ENST00000695655.1:c.2693C>T	ENSP00000512086.1:n.2693C>T
ENST00000695692.1:n.3116C>T
ENST00000245907.11:c.3752C>T MANE Select	ENSP00000245907.4:p.Pro1251Leu
ENST00000245907.10:c.3752C>T	ENSP00000245907.4:p.Pro1251Leu
ENST00000596238.1:n.195C>T
ENST00000601008.1:c.241+564C>T	ENSP00000471384.1:n.241+564C>T
NM_000064.3:c.3752C>T	NP_000055.2:p.Pro1251Leu
NM_000064.4:c.3752C>T MANE Select	NP_000055.2:p.Pro1251Leu