Canonical Allele Identifier: CA304771631
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs979834917
gnomAD v3: 19-6679305-T-A
gnomAD v4: 19-6679305-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679305T>A , CM000681.2:g.6679305T>A GRCh38
NC_000019.9:g.6679316T>A , CM000681.1:g.6679316T>A GRCh37
NC_000019.8:g.6630316T>A NCBI36
NG_009557.1:g.46347A>T , LRG_27:g.46347A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2895-97A>T
ENST00000695653.1:c.2456-97A>T ENSP00000512084.1:n.2456-97A>T
ENST00000695654.1:c.3572-97A>T ENSP00000512085.1:n.3572-97A>T
ENST00000695689.1:c.518-97A>T ENSP00000512101.1:n.518-97A>T
ENST00000695690.1:n.1612-97A>T
ENST00000695691.1:n.1408-97A>T
ENST00000245907.11:c.4547-97A>T MANE Select ENSP00000245907.4:n.4547-97A>T
ENST00000245907.10:c.4547-97A>T ENSP00000245907.4:n.4547-97A>T
ENST00000599668.1:n.166+77A>T
ENST00000599899.5:n.1506-97A>T
ENST00000601008.1:c.242-1347A>T ENSP00000471384.1:n.242-1347A>T
NM_000064.3:c.4547-97A>T NP_000055.2:n.4547-97A>T
NM_000064.4:c.4547-97A>T MANE Select NP_000055.2:n.4547-97A>T