Canonical Allele Identifier: CA884143414

Gene: C3

Linked Data

• dbSNP Id: rs1257587038
• gnomAD v3: 19-6701482-T-G
• gnomAD v4: 19-6701482-T-G
• MyVariant Identifiers: chr19:g.6701493T>G (hg19) ; chr19:g.6701482T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6701482T>G , CM000681.2:g.6701482T>G	GRCh38
NC_000019.9:g.6701493T>G , CM000681.1:g.6701493T>G	GRCh37
NC_000019.8:g.6652493T>G	NCBI36
NG_009557.1:g.24170A>C , LRG_27:g.24170A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.788+645A>C
ENST00000695652.1:c.2317+645A>C	ENSP00000512083.1:n.2317+645A>C
ENST00000695653.1:c.349+645A>C	ENSP00000512084.1:n.349+645A>C
ENST00000695654.1:c.1564+645A>C	ENSP00000512085.1:n.1564+645A>C
ENST00000695655.1:c.1381+645A>C	ENSP00000512086.1:n.1381+645A>C
ENST00000695692.1:n.1804+645A>C
ENST00000245907.11:c.2440+645A>C MANE Select	ENSP00000245907.4:n.2440+645A>C
ENST00000245907.10:c.2440+645A>C	ENSP00000245907.4:n.2440+645A>C
ENST00000602053.1:n.488+645A>C
NM_000064.3:c.2440+645A>C	NP_000055.2:n.2440+645A>C
NM_000064.4:c.2440+645A>C MANE Select	NP_000055.2:n.2440+645A>C