Canonical Allele Identifier: CA9129754

Gene: C3

Linked Data

• dbSNP Id: rs755576267
• ExAC: 19:6714282 G / C
• gnomAD v2: 19-6714282-G-C
• gnomAD v3: 19-6714271-G-C
• gnomAD v4: 19-6714271-G-C
• MyVariant Identifiers: chr19:g.6714282G>C (hg19) ; chr19:g.6714271G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714271G>C , CM000681.2:g.6714271G>C	GRCh38
NC_000019.9:g.6714282G>C , CM000681.1:g.6714282G>C	GRCh37
NC_000019.8:g.6665282G>C	NCBI36
NG_009557.1:g.11381C>G , LRG_27:g.11381C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.477-23C>G	ENSP00000512083.1:n.477-23C>G
ENST00000245907.11:c.600-23C>G MANE Select	ENSP00000245907.4:n.600-23C>G
ENST00000245907.10:c.600-23C>G	ENSP00000245907.4:n.600-23C>G
ENST00000595577.1:n.81C>G
NM_000064.3:c.600-23C>G	NP_000055.2:n.600-23C>G
NM_000064.4:c.600-23C>G MANE Select	NP_000055.2:n.600-23C>G