Canonical Allele Identifier: CA2587872386
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6682442-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682442C>A , CM000681.2:g.6682442C>A GRCh38
NC_000019.9:g.6682453C>A , CM000681.1:g.6682453C>A GRCh37
NC_000019.8:g.6633453C>A NCBI36
NG_009557.1:g.43210G>T , LRG_27:g.43210G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2521-213G>T
ENST00000695653.1:c.2082-213G>T ENSP00000512084.1:n.2082-213G>T
ENST00000695654.1:c.3198-213G>T ENSP00000512085.1:n.3198-213G>T
ENST00000695689.1:c.143+165G>T ENSP00000512101.1:n.143+165G>T
ENST00000695690.1:n.364-213G>T
ENST00000695691.1:n.364-213G>T
ENST00000245907.11:c.4173-213G>T MANE Select ENSP00000245907.4:n.4173-213G>T
ENST00000245907.10:c.4173-213G>T ENSP00000245907.4:n.4173-213G>T
ENST00000596548.1:c.294-213G>T ENSP00000469744.1:n.294-213G>T
ENST00000599899.5:n.919G>T
ENST00000601008.1:c.241+4304G>T ENSP00000471384.1:n.241+4304G>T
NM_000064.3:c.4173-213G>T NP_000055.2:n.4173-213G>T
NM_000064.4:c.4173-213G>T MANE Select NP_000055.2:n.4173-213G>T