Canonical Allele Identifier: CA403643610
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6714430-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714430G>C , CM000681.2:g.6714430G>C GRCh38
NC_000019.9:g.6714441G>C , CM000681.1:g.6714441G>C GRCh37
NC_000019.8:g.6665441G>C NCBI36
NG_009557.1:g.11222C>G , LRG_27:g.11222C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.398C>G ENSP00000512083.1:p.Pro133Arg
ENST00000245907.11:c.521C>G MANE Select ENSP00000245907.4:p.Pro174Arg
ENST00000245907.10:c.521C>G ENSP00000245907.4:p.Pro174Arg
NM_000064.3:c.521C>G NP_000055.2:p.Pro174Arg
NM_000064.4:c.521C>G MANE Select NP_000055.2:p.Pro174Arg