Canonical Allele Identifier: CA14633518
Gene: C3 HGNC NCBI
COSMIC:
COSN6670078 (not active)
MyVariant.info:
GRCh38 chr19:g.6690265T>A
GRCh37 chr19:g.6690276T>A
gnomAD v2:
19:6690276 T / A
gnomAD v3:
19:6690265 T / A
gnomAD v4:
chr19-6690265-T-A
Joint Max Group AF 0.12333515 (NFE)
Genomes Max Group AF 0.12333515 (NFE)
dbSNP:
11569514
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6690265T>A , CM000681.2:g.6690265T>A GRCh38
NC_000019.9:g.6690276T>A , CM000681.1:g.6690276T>A GRCh37
NC_000019.8:g.6641276T>A NCBI36
NG_009557.1:g.35387A>T , LRG_27:g.35387A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.1837+364A>T
ENST00000695652.1:c.3366+364A>T ENSP00000512083.1:n.3366+364A>T
ENST00000695653.1:c.1398+364A>T ENSP00000512084.1:n.1398+364A>T
ENST00000695654.1:c.2514+2659A>T ENSP00000512085.1:n.2514+2659A>T
ENST00000695655.1:c.2430+364A>T ENSP00000512086.1:n.2430+364A>T
ENST00000695692.1:n.2853+364A>T
ENST00000245907.11:c.3489+364A>T MANE Select ENSP00000245907.4:n.3489+364A>T
ENST00000245907.10:c.3489+364A>T ENSP00000245907.4:n.3489+364A>T
ENST00000598805.2:n.259+364A>T
ENST00000601008.1:c.84+364A>T ENSP00000471384.1:n.84+364A>T
NM_000064.3:c.3489+364A>T NP_000055.2:n.3489+364A>T
NM_000064.4:c.3489+364A>T MANE Select NP_000055.2:n.3489+364A>T
Search 100 bp 5'
Search 100 bp 3'