Canonical Allele Identifier: CA14653451
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs445750
gnomAD v2: 19-6701513-G-A
gnomAD v3: 19-6701502-G-A
gnomAD v4: 19-6701502-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6701502G>A , CM000681.2:g.6701502G>A GRCh38
NC_000019.9:g.6701513G>A , CM000681.1:g.6701513G>A GRCh37
NC_000019.8:g.6652513G>A NCBI36
NG_009557.1:g.24150C>T , LRG_27:g.24150C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000695651.1:n.788+625C>T
ENST00000695652.1:c.2317+625C>T ENSP00000512083.1:n.2317+625C>T
ENST00000695653.1:c.349+625C>T ENSP00000512084.1:n.349+625C>T
ENST00000695654.1:c.1564+625C>T ENSP00000512085.1:n.1564+625C>T
ENST00000695655.1:c.1381+625C>T ENSP00000512086.1:n.1381+625C>T
ENST00000695692.1:n.1804+625C>T
ENST00000245907.11:c.2440+625C>T MANE Select ENSP00000245907.4:n.2440+625C>T
ENST00000245907.10:c.2440+625C>T ENSP00000245907.4:n.2440+625C>T
ENST00000602053.1:n.488+625C>T
NM_000064.3:c.2440+625C>T NP_000055.2:n.2440+625C>T
NM_000064.4:c.2440+625C>T MANE Select NP_000055.2:n.2440+625C>T