Canonical Allele Identifier: CA9128382
Gene: C3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1645767
dbSNP Id: rs375382978
gnomAD v2: 19-6679520-G-A
gnomAD v3: 19-6679509-G-A
gnomAD v4: 19-6679509-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679509G>A , CM000681.2:g.6679509G>A GRCh38
NC_000019.9:g.6679520G>A , CM000681.1:g.6679520G>A GRCh37
NC_000019.8:g.6630520G>A NCBI36
NG_009557.1:g.46143C>T , LRG_27:g.46143C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2805-13C>T
ENST00000695653.1:c.2366-13C>T ENSP00000512084.1:n.2366-13C>T
ENST00000695654.1:c.3482-13C>T ENSP00000512085.1:n.3482-13C>T
ENST00000695689.1:c.428-13C>T ENSP00000512101.1:n.428-13C>T
ENST00000695690.1:n.1522-13C>T
ENST00000695691.1:n.1318-13C>T
ENST00000245907.11:c.4457-13C>T MANE Select ENSP00000245907.4:n.4457-13C>T
ENST00000245907.10:c.4457-13C>T ENSP00000245907.4:n.4457-13C>T
ENST00000599668.1:n.52-13C>T
ENST00000599899.5:n.1416-13C>T
ENST00000601008.1:c.242-1551C>T ENSP00000471384.1:n.242-1551C>T
NM_000064.3:c.4457-13C>T NP_000055.2:n.4457-13C>T
NM_000064.4:c.4457-13C>T MANE Select NP_000055.2:n.4457-13C>T