Canonical Allele Identifier: CA403642840
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs758489741
gnomAD v2: 19-6713522-T-A
gnomAD v3: 19-6713511-T-A
gnomAD v4: 19-6713511-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713511T>A , CM000681.2:g.6713511T>A GRCh38
NC_000019.9:g.6713522T>A , CM000681.1:g.6713522T>A GRCh37
NC_000019.8:g.6664522T>A NCBI36
NG_009557.1:g.12141A>T , LRG_27:g.12141A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.651-2A>T ENSP00000512083.1:n.651-2A>T
ENST00000695692.1:n.96A>T
ENST00000245907.11:c.774-2A>T MANE Select ENSP00000245907.4:n.774-2A>T
ENST00000245907.10:c.774-2A>T ENSP00000245907.4:n.774-2A>T
ENST00000595577.1:n.278-2A>T
ENST00000597442.5:n.24-2A>T
NM_000064.3:c.774-2A>T NP_000055.2:n.774-2A>T
NM_000064.4:c.774-2A>T MANE Select NP_000055.2:n.774-2A>T