Canonical Allele Identifier: CA403642938
Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs1305470894
gnomAD v3: 19-6714021-C-G
gnomAD v4: 19-6714021-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714021C>G , CM000681.2:g.6714021C>G GRCh38
NC_000019.9:g.6714032C>G , CM000681.1:g.6714032C>G GRCh37
NC_000019.8:g.6665032C>G NCBI36
NG_009557.1:g.11631G>C , LRG_27:g.11631G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.621G>C ENSP00000512083.1:p.Glu207Asp
ENST00000245907.11:c.744G>C MANE Select ENSP00000245907.4:p.Glu248Asp
ENST00000245907.10:c.744G>C ENSP00000245907.4:p.Glu248Asp
ENST00000595577.1:n.248G>C
NM_000064.3:c.744G>C NP_000055.2:p.Glu248Asp
NM_000064.4:c.744G>C MANE Select NP_000055.2:p.Glu248Asp