Canonical Allele Identifier: CA9128639
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs746723271
gnomAD v2: 19-6686158-C-T
gnomAD v3: 19-6686147-C-T
gnomAD v4: 19-6686147-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6686147C>T , CM000681.2:g.6686147C>T GRCh38
NC_000019.9:g.6686158C>T , CM000681.1:g.6686158C>T GRCh37
NC_000019.8:g.6637158C>T NCBI36
NG_009557.1:g.39505G>A , LRG_27:g.39505G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2135G>A
ENST00000695652.1:c.3664G>A ENSP00000512083.1:p.Gly1222Ser
ENST00000695653.1:c.1696G>A ENSP00000512084.1:p.Gly566Ser
ENST00000695654.1:c.2812G>A ENSP00000512085.1:p.Gly938Ser
ENST00000695655.1:c.2728G>A ENSP00000512086.1:n.2728G>A
ENST00000695692.1:n.3151G>A
ENST00000245907.11:c.3787G>A MANE Select ENSP00000245907.4:p.Gly1263Ser
ENST00000245907.10:c.3787G>A ENSP00000245907.4:p.Gly1263Ser
ENST00000596238.1:n.230G>A
ENST00000601008.1:c.241+599G>A ENSP00000471384.1:n.241+599G>A
NM_000064.3:c.3787G>A NP_000055.2:p.Gly1263Ser
NM_000064.4:c.3787G>A MANE Select NP_000055.2:p.Gly1263Ser