Canonical Allele Identifier: CA304788105
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs897582201
gnomAD v3: 19-6701345-C-T
gnomAD v4: 19-6701345-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6701345C>T , CM000681.2:g.6701345C>T GRCh38
NC_000019.9:g.6701356C>T , CM000681.1:g.6701356C>T GRCh37
NC_000019.8:g.6652356C>T NCBI36
NG_009557.1:g.24307G>A , LRG_27:g.24307G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.788+782G>A
ENST00000695652.1:c.2317+782G>A ENSP00000512083.1:n.2317+782G>A
ENST00000695653.1:c.349+782G>A ENSP00000512084.1:n.349+782G>A
ENST00000695654.1:c.1564+782G>A ENSP00000512085.1:n.1564+782G>A
ENST00000695655.1:c.1381+782G>A ENSP00000512086.1:n.1381+782G>A
ENST00000695692.1:n.1804+782G>A
ENST00000245907.11:c.2440+782G>A MANE Select ENSP00000245907.4:n.2440+782G>A
ENST00000245907.10:c.2440+782G>A ENSP00000245907.4:n.2440+782G>A
ENST00000602053.1:n.488+782G>A
NM_000064.3:c.2440+782G>A NP_000055.2:n.2440+782G>A
NM_000064.4:c.2440+782G>A MANE Select NP_000055.2:n.2440+782G>A