Canonical Allele Identifier: CA631722242

Gene: C3

Linked Data

• dbSNP Id: rs1446620429
• gnomAD v2: 19-6686026-C-G
• gnomAD v3: 19-6686015-C-G
• gnomAD v4: 19-6686015-C-G
• MyVariant Identifiers: chr19:g.6686026C>G (hg19) ; chr19:g.6686015C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686015C>G , CM000681.2:g.6686015C>G	GRCh38
NC_000019.9:g.6686026C>G , CM000681.1:g.6686026C>G	GRCh37
NC_000019.8:g.6637026C>G	NCBI36
NG_009557.1:g.39637G>C , LRG_27:g.39637G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2158+109G>C
ENST00000695653.1:c.1719+109G>C	ENSP00000512084.1:n.1719+109G>C
ENST00000695654.1:c.2835+109G>C	ENSP00000512085.1:n.2835+109G>C
ENST00000245907.11:c.3810+109G>C MANE Select	ENSP00000245907.4:n.3810+109G>C
ENST00000245907.10:c.3810+109G>C	ENSP00000245907.4:n.3810+109G>C
ENST00000596238.1:n.253+109G>C
ENST00000601008.1:c.241+731G>C	ENSP00000471384.1:n.241+731G>C
NM_000064.3:c.3810+109G>C	NP_000055.2:n.3810+109G>C
NM_000064.4:c.3810+109G>C MANE Select	NP_000055.2:n.3810+109G>C