Canonical Allele Identifier: CA2587872989
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6684858-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6684858G>A , CM000681.2:g.6684858G>A GRCh38
NC_000019.9:g.6684869G>A , CM000681.1:g.6684869G>A GRCh37
NC_000019.8:g.6635869G>A NCBI36
NG_009557.1:g.40794C>T , LRG_27:g.40794C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2318-24C>T
ENST00000695653.1:c.1879-24C>T ENSP00000512084.1:n.1879-24C>T
ENST00000695654.1:c.2995-24C>T ENSP00000512085.1:n.2995-24C>T
ENST00000695690.1:n.161-24C>T
ENST00000695691.1:n.161-24C>T
ENST00000245907.11:c.3970-24C>T MANE Select ENSP00000245907.4:n.3970-24C>T
ENST00000245907.10:c.3970-24C>T ENSP00000245907.4:n.3970-24C>T
ENST00000596238.1:n.413-24C>T
ENST00000596548.1:c.52-24C>T ENSP00000469744.1:n.52-24C>T
ENST00000601008.1:c.241+1888C>T ENSP00000471384.1:n.241+1888C>T
NM_000064.3:c.3970-24C>T NP_000055.2:n.3970-24C>T
NM_000064.4:c.3970-24C>T MANE Select NP_000055.2:n.3970-24C>T