Canonical Allele Identifier: CA9129702
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 330336
ClinVar RCV Id: RCV000264988 RCV000324484 RCV000359581 RCV001523349 RCV001702426 RCV002294287 RCV003957697
dbSNP Id: rs11569571
ExAC: 19:6714035 G / A
gnomAD v2: 19-6714035-G-A
gnomAD v3: 19-6714024-G-A
gnomAD v4: 19-6714024-G-A
MyVariant Identifiers: chr19:g.6714035G>A (hg19) chr19:g.6714024G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714024G>A , CM000681.2:g.6714024G>A GRCh38
NC_000019.9:g.6714035G>A , CM000681.1:g.6714035G>A GRCh37
NC_000019.8:g.6665035G>A NCBI36
NG_009557.1:g.11628C>T , LRG_27:g.11628C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.618C>T ENSP00000512083.1:p.Asn206=
ENST00000245907.11:c.741C>T MANE Select ENSP00000245907.4:p.Asn247=
ENST00000245907.10:c.741C>T ENSP00000245907.4:p.Asn247=
ENST00000595577.1:n.245C>T
NM_000064.3:c.741C>T NP_000055.2:p.Asn247=
NM_000064.4:c.741C>T MANE Select NP_000055.2:p.Asn247=
Search 100 bp 5'
Search 100 bp 3'