Canonical Allele Identifier: CA505122197
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1399110742
gnomAD v4: 19-6681944-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6681944G>A , CM000681.2:g.6681944G>A GRCh38
NC_000019.9:g.6681955G>A , CM000681.1:g.6681955G>A GRCh37
NC_000019.8:g.6632955G>A NCBI36
NG_009557.1:g.43708C>T , LRG_27:g.43708C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2695C>T
ENST00000695653.1:c.2256C>T ENSP00000512084.1:p.Asp752=
ENST00000695654.1:c.3372C>T ENSP00000512085.1:p.Asp1124=
ENST00000695689.1:c.318C>T ENSP00000512101.1:n.318C>T
ENST00000695690.1:n.538C>T
ENST00000695691.1:n.538C>T
ENST00000245907.11:c.4347C>T MANE Select ENSP00000245907.4:p.Asp1449=
ENST00000245907.10:c.4347C>T ENSP00000245907.4:p.Asp1449=
ENST00000596548.1:c.468C>T ENSP00000469744.1:p.Asp156=
ENST00000599899.5:n.1306C>T
ENST00000601008.1:c.242-3986C>T ENSP00000471384.1:n.242-3986C>T
NM_000064.3:c.4347C>T NP_000055.2:p.Asp1449=
NM_000064.4:c.4347C>T MANE Select NP_000055.2:p.Asp1449=