Canonical Allele Identifier: CA9129786
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1594497
ClinVar RCV Id: RCV002107858
dbSNP Id: rs370998019
gnomAD v2: 19-6714452-C-T
gnomAD v3: 19-6714441-C-T
gnomAD v4: 19-6714441-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714441C>T , CM000681.2:g.6714441C>T GRCh38
NC_000019.9:g.6714452C>T , CM000681.1:g.6714452C>T GRCh37
NC_000019.8:g.6665452C>T NCBI36
NG_009557.1:g.11211G>A , LRG_27:g.11211G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.387G>A ENSP00000512083.1:p.Pro129=
ENST00000245907.11:c.510G>A MANE Select ENSP00000245907.4:p.Pro170=
ENST00000245907.10:c.510G>A ENSP00000245907.4:p.Pro170=
NM_000064.3:c.510G>A NP_000055.2:p.Pro170=
NM_000064.4:c.510G>A MANE Select NP_000055.2:p.Pro170=