Canonical Allele Identifier: CA403642918
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6714011-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6714011C>T , CM000681.2:g.6714011C>T GRCh38
NC_000019.9:g.6714022C>T , CM000681.1:g.6714022C>T GRCh37
NC_000019.8:g.6665022C>T NCBI36
NG_009557.1:g.11641G>A , LRG_27:g.11641G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.631G>A ENSP00000512083.1:p.Glu211Lys
ENST00000245907.11:c.754G>A MANE Select ENSP00000245907.4:p.Glu252Lys
ENST00000245907.10:c.754G>A ENSP00000245907.4:p.Glu252Lys
ENST00000595577.1:n.258G>A
NM_000064.3:c.754G>A NP_000055.2:p.Glu252Lys
NM_000064.4:c.754G>A MANE Select NP_000055.2:p.Glu252Lys