Canonical Allele Identifier: CA403643178
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1355710608
gnomAD v2: 19-6714213-G-C
gnomAD v4: 19-6714202-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714202G>C , CM000681.2:g.6714202G>C GRCh38
NC_000019.9:g.6714213G>C , CM000681.1:g.6714213G>C GRCh37
NC_000019.8:g.6665213G>C NCBI36
NG_009557.1:g.11450C>G , LRG_27:g.11450C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.523C>G ENSP00000512083.1:p.Gln175Glu
ENST00000245907.11:c.646C>G MANE Select ENSP00000245907.4:p.Gln216Glu
ENST00000245907.10:c.646C>G ENSP00000245907.4:p.Gln216Glu
ENST00000595577.1:n.150C>G
NM_000064.3:c.646C>G NP_000055.2:p.Gln216Glu
NM_000064.4:c.646C>G MANE Select NP_000055.2:p.Gln216Glu