Canonical Allele Identifier: CA403643669
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6714439-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714439T>C , CM000681.2:g.6714439T>C GRCh38
NC_000019.9:g.6714450T>C , CM000681.1:g.6714450T>C GRCh37
NC_000019.8:g.6665450T>C NCBI36
NG_009557.1:g.11213A>G , LRG_27:g.11213A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.389A>G ENSP00000512083.1:p.Glu130Gly
ENST00000245907.11:c.512A>G MANE Select ENSP00000245907.4:p.Glu171Gly
ENST00000245907.10:c.512A>G ENSP00000245907.4:p.Glu171Gly
NM_000064.3:c.512A>G NP_000055.2:p.Glu171Gly
NM_000064.4:c.512A>G MANE Select NP_000055.2:p.Glu171Gly