Canonical Allele Identifier: CA9128442
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 330285
dbSNP Id: rs7951
gnomAD v2: 19-6681991-G-A
gnomAD v3: 19-6681980-G-A
gnomAD v4: 19-6681980-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681980G>A , CM000681.2:g.6681980G>A GRCh38
NC_000019.9:g.6681991G>A , CM000681.1:g.6681991G>A GRCh37
NC_000019.8:g.6632991G>A NCBI36
NG_009557.1:g.43672C>T , LRG_27:g.43672C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.2659C>T
ENST00000695653.1:c.2220C>T ENSP00000512084.1:p.Ala740=
ENST00000695654.1:c.3336C>T ENSP00000512085.1:p.Ala1112=
ENST00000695689.1:c.282C>T ENSP00000512101.1:n.282C>T
ENST00000695690.1:n.502C>T
ENST00000695691.1:n.502C>T
ENST00000245907.11:c.4311C>T MANE Select ENSP00000245907.4:p.Ala1437=
ENST00000245907.10:c.4311C>T ENSP00000245907.4:p.Ala1437=
ENST00000596548.1:c.432C>T ENSP00000469744.1:p.Ala144=
ENST00000599899.5:n.1270C>T
ENST00000601008.1:c.242-4022C>T ENSP00000471384.1:n.242-4022C>T
NM_000064.3:c.4311C>T NP_000055.2:p.Ala1437=
NM_000064.4:c.4311C>T MANE Select NP_000055.2:p.Ala1437=