Canonical Allele Identifier: CA9128360
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs148377730
gnomAD v2: 19-6679270-C-T
gnomAD v3: 19-6679259-C-T
gnomAD v4: 19-6679259-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679259C>T , CM000681.2:g.6679259C>T GRCh38
NC_000019.9:g.6679270C>T , CM000681.1:g.6679270C>T GRCh37
NC_000019.8:g.6630270C>T NCBI36
NG_009557.1:g.46393G>A , LRG_27:g.46393G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2895-51G>A
ENST00000695653.1:c.2456-51G>A ENSP00000512084.1:n.2456-51G>A
ENST00000695654.1:c.3572-51G>A ENSP00000512085.1:n.3572-51G>A
ENST00000695689.1:c.518-51G>A ENSP00000512101.1:n.518-51G>A
ENST00000695690.1:n.1612-51G>A
ENST00000695691.1:n.1408-51G>A
ENST00000245907.11:c.4547-51G>A MANE Select ENSP00000245907.4:n.4547-51G>A
ENST00000245907.10:c.4547-51G>A ENSP00000245907.4:n.4547-51G>A
ENST00000599668.1:n.167-51G>A
ENST00000599899.5:n.1506-51G>A
ENST00000601008.1:c.242-1301G>A ENSP00000471384.1:n.242-1301G>A
NM_000064.3:c.4547-51G>A NP_000055.2:n.4547-51G>A
NM_000064.4:c.4547-51G>A MANE Select NP_000055.2:n.4547-51G>A