Canonical Allele Identifier: CA9128625
Gene: C3 HGNC NCBI
COSMIC:
COSN8867387 (not active)
COSN16605919 (not active)
MyVariant.info:
GRCh38 chr19:g.6686078G>A
GRCh37 chr19:g.6686089G>A
gnomAD v2:
19:6686089 G / A
gnomAD v3:
19:6686078 G / A
gnomAD v4:
chr19-6686078-G-A
Joint Max Group AF 0.07229142 (NFE)
Genomes Max Group AF 0.06884356 (NFE)
Exomes Max Group AF 0.07241383 (NFE)
ClinVar RCV:
RCV001669039
ClinVar Variation:
1258093
dbSNP:
11569536
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686078G>A , CM000681.2:g.6686078G>A GRCh38
NC_000019.9:g.6686089G>A , CM000681.1:g.6686089G>A GRCh37
NC_000019.8:g.6637089G>A NCBI36
NG_009557.1:g.39574C>T , LRG_27:g.39574C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2158+46C>T
ENST00000695653.1:c.1719+46C>T ENSP00000512084.1:n.1719+46C>T
ENST00000695654.1:c.2835+46C>T ENSP00000512085.1:n.2835+46C>T
ENST00000245907.11:c.3810+46C>T MANE Select ENSP00000245907.4:n.3810+46C>T
ENST00000245907.10:c.3810+46C>T ENSP00000245907.4:n.3810+46C>T
ENST00000596238.1:n.253+46C>T
ENST00000601008.1:c.241+668C>T ENSP00000471384.1:n.241+668C>T
NM_000064.3:c.3810+46C>T NP_000055.2:n.3810+46C>T
NM_000064.4:c.3810+46C>T MANE Select NP_000055.2:n.3810+46C>T
Search 100 bp 5'
Search 100 bp 3'