Canonical Allele Identifier: CA9129725

Gene: C3

Linked Data

• dbSNP Id: rs373666348
• ExAC: 19:6714141 T / G
• gnomAD v2: 19-6714141-T-G
• gnomAD v3: 19-6714130-T-G
• gnomAD v4: 19-6714130-T-G
• MyVariant Identifiers: chr19:g.6714141T>G (hg19) ; chr19:g.6714130T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714130T>G , CM000681.2:g.6714130T>G	GRCh38
NC_000019.9:g.6714141T>G , CM000681.1:g.6714141T>G	GRCh37
NC_000019.8:g.6665141T>G	NCBI36
NG_009557.1:g.11522A>C , LRG_27:g.11522A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.559+36A>C	ENSP00000512083.1:n.559+36A>C
ENST00000245907.11:c.682+36A>C MANE Select	ENSP00000245907.4:n.682+36A>C
ENST00000245907.10:c.682+36A>C	ENSP00000245907.4:n.682+36A>C
ENST00000595577.1:n.186+36A>C
NM_000064.3:c.682+36A>C	NP_000055.2:n.682+36A>C
NM_000064.4:c.682+36A>C MANE Select	NP_000055.2:n.682+36A>C