Canonical Allele Identifier: CA505120577
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1476921236
gnomAD v2: 19-6679494-G-A
gnomAD v3: 19-6679483-G-A
gnomAD v4: 19-6679483-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6679483G>A , CM000681.2:g.6679483G>A GRCh38
NC_000019.9:g.6679494G>A , CM000681.1:g.6679494G>A GRCh37
NC_000019.8:g.6630494G>A NCBI36
NG_009557.1:g.46169C>T , LRG_27:g.46169C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2818C>T
ENST00000695653.1:c.2379C>T ENSP00000512084.1:p.Thr793=
ENST00000695654.1:c.3495C>T ENSP00000512085.1:p.Thr1165=
ENST00000695689.1:c.441C>T ENSP00000512101.1:n.441C>T
ENST00000695690.1:n.1535C>T
ENST00000695691.1:n.1331C>T
ENST00000245907.11:c.4470C>T MANE Select ENSP00000245907.4:p.Thr1490=
ENST00000245907.10:c.4470C>T ENSP00000245907.4:p.Thr1490=
ENST00000599668.1:n.65C>T
ENST00000599899.5:n.1429C>T
ENST00000601008.1:c.242-1525C>T ENSP00000471384.1:n.242-1525C>T
NM_000064.3:c.4470C>T NP_000055.2:p.Thr1490=
NM_000064.4:c.4470C>T MANE Select NP_000055.2:p.Thr1490=