Canonical Allele Identifier: CA403615011
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs2145393301
gnomAD v3: 19-6682021-C-T
gnomAD v4: 19-6682021-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6682021C>T , CM000681.2:g.6682021C>T GRCh38
NC_000019.9:g.6682032C>T , CM000681.1:g.6682032C>T GRCh37
NC_000019.8:g.6633032C>T NCBI36
NG_009557.1:g.43631G>A , LRG_27:g.43631G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695651.1:n.2618G>A
ENST00000695653.1:c.2179G>A ENSP00000512084.1:p.Gly727Ser
ENST00000695654.1:c.3295G>A ENSP00000512085.1:p.Gly1099Ser
ENST00000695689.1:c.241G>A ENSP00000512101.1:n.241G>A
ENST00000695690.1:n.461G>A
ENST00000695691.1:n.461G>A
ENST00000245907.11:c.4270G>A MANE Select ENSP00000245907.4:p.Gly1424Ser
ENST00000245907.10:c.4270G>A ENSP00000245907.4:p.Gly1424Ser
ENST00000596548.1:c.391G>A ENSP00000469744.1:p.Gly131Ser
ENST00000599899.5:n.1229G>A
ENST00000601008.1:c.242-4063G>A ENSP00000471384.1:n.242-4063G>A
NM_000064.3:c.4270G>A NP_000055.2:p.Gly1424Ser
NM_000064.4:c.4270G>A MANE Select NP_000055.2:p.Gly1424Ser