Canonical Allele Identifier: CA631722530
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs768225575
gnomAD v2: 19-6709651-G-A
gnomAD v4: 19-6709640-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709640G>A , CM000681.2:g.6709640G>A GRCh38
NC_000019.9:g.6709651G>A , CM000681.1:g.6709651G>A GRCh37
NC_000019.8:g.6660651G>A NCBI36
NG_009557.1:g.16012C>T , LRG_27:g.16012C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.1722+44C>T ENSP00000512083.1:n.1722+44C>T
ENST00000695654.1:c.969+44C>T ENSP00000512085.1:n.969+44C>T
ENST00000695655.1:c.786+44C>T ENSP00000512086.1:n.786+44C>T
ENST00000695692.1:n.1209+44C>T
ENST00000245907.11:c.1845+44C>T MANE Select ENSP00000245907.4:n.1845+44C>T
ENST00000245907.10:c.1845+44C>T ENSP00000245907.4:n.1845+44C>T
NM_000064.3:c.1845+44C>T NP_000055.2:n.1845+44C>T
NM_000064.4:c.1845+44C>T MANE Select NP_000055.2:n.1845+44C>T