Canonical Allele Identifier: CA403642593
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1238225357
gnomAD v2: 19-6713462-C-T
gnomAD v4: 19-6713451-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713451C>T , CM000681.2:g.6713451C>T GRCh38
NC_000019.9:g.6713462C>T , CM000681.1:g.6713462C>T GRCh37
NC_000019.8:g.6664462C>T NCBI36
NG_009557.1:g.12201G>A , LRG_27:g.12201G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.709G>A ENSP00000512083.1:p.Gly237Ser
ENST00000695692.1:n.156G>A
ENST00000245907.11:c.832G>A MANE Select ENSP00000245907.4:p.Gly278Ser
ENST00000245907.10:c.832G>A ENSP00000245907.4:p.Gly278Ser
ENST00000595577.1:n.336G>A
ENST00000597442.5:n.82G>A
NM_000064.3:c.832G>A NP_000055.2:p.Gly278Ser
NM_000064.4:c.832G>A MANE Select NP_000055.2:p.Gly278Ser