Canonical Allele Identifier: CA9129763

Gene: C3

Linked Data

• dbSNP Id: rs747177157
• ExAC: 19:6714317 C / T
• gnomAD v2: 19-6714317-C-T
• gnomAD v3: 19-6714306-C-T
• gnomAD v4: 19-6714306-C-T
• COSMIC: COSN20062827 ; COSN20273968
• MyVariant Identifiers: chr19:g.6714317C>T (hg19) ; chr19:g.6714306C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6714306C>T , CM000681.2:g.6714306C>T	GRCh38
NC_000019.9:g.6714317C>T , CM000681.1:g.6714317C>T	GRCh37
NC_000019.8:g.6665317C>T	NCBI36
NG_009557.1:g.11346G>A , LRG_27:g.11346G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.476+46G>A	ENSP00000512083.1:n.476+46G>A
ENST00000245907.11:c.599+46G>A MANE Select	ENSP00000245907.4:n.599+46G>A
ENST00000245907.10:c.599+46G>A	ENSP00000245907.4:n.599+46G>A
ENST00000595577.1:n.46G>A
NM_000064.3:c.599+46G>A	NP_000055.2:n.599+46G>A
NM_000064.4:c.599+46G>A MANE Select	NP_000055.2:n.599+46G>A