Canonical Allele Identifier: CA2587876831
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6709546-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6709546C>A , CM000681.2:g.6709546C>A GRCh38
NC_000019.9:g.6709557C>A , CM000681.1:g.6709557C>A GRCh37
NC_000019.8:g.6660557C>A NCBI36
NG_009557.1:g.16106G>T , LRG_27:g.16106G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695652.1:c.1722+138G>T ENSP00000512083.1:n.1722+138G>T
ENST00000695654.1:c.969+138G>T ENSP00000512085.1:n.969+138G>T
ENST00000695655.1:c.786+138G>T ENSP00000512086.1:n.786+138G>T
ENST00000695692.1:n.1209+138G>T
ENST00000245907.11:c.1845+138G>T MANE Select ENSP00000245907.4:n.1845+138G>T
ENST00000245907.10:c.1845+138G>T ENSP00000245907.4:n.1845+138G>T
NM_000064.3:c.1845+138G>T NP_000055.2:n.1845+138G>T
NM_000064.4:c.1845+138G>T MANE Select NP_000055.2:n.1845+138G>T