Canonical Allele Identifier: CA631722497

Gene: C3

Linked Data

• dbSNP Id: rs1438496447
• gnomAD v2: 19-6709585-T-G
• gnomAD v3: 19-6709574-T-G
• gnomAD v4: 19-6709574-T-G
• MyVariant Identifiers: chr19:g.6709585T>G (hg19) ; chr19:g.6709574T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6709574T>G , CM000681.2:g.6709574T>G	GRCh38
NC_000019.9:g.6709585T>G , CM000681.1:g.6709585T>G	GRCh37
NC_000019.8:g.6660585T>G	NCBI36
NG_009557.1:g.16078A>C , LRG_27:g.16078A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000695652.1:c.1722+110A>C	ENSP00000512083.1:n.1722+110A>C
ENST00000695654.1:c.969+110A>C	ENSP00000512085.1:n.969+110A>C
ENST00000695655.1:c.786+110A>C	ENSP00000512086.1:n.786+110A>C
ENST00000695692.1:n.1209+110A>C
ENST00000245907.11:c.1845+110A>C MANE Select	ENSP00000245907.4:n.1845+110A>C
ENST00000245907.10:c.1845+110A>C	ENSP00000245907.4:n.1845+110A>C
NM_000064.3:c.1845+110A>C	NP_000055.2:n.1845+110A>C
NM_000064.4:c.1845+110A>C MANE Select	NP_000055.2:n.1845+110A>C