Canonical Allele Identifier: CA403642561
Gene: C3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713443C>A , CM000681.2:g.6713443C>A GRCh38
NC_000019.9:g.6713454C>A , CM000681.1:g.6713454C>A GRCh37
NC_000019.8:g.6664454C>A NCBI36
NG_009557.1:g.12209G>T , LRG_27:g.12209G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.717G>T ENSP00000512083.1:p.Gln239His
ENST00000695692.1:n.164G>T
ENST00000245907.11:c.840G>T MANE Select ENSP00000245907.4:p.Gln280His
ENST00000245907.10:c.840G>T ENSP00000245907.4:p.Gln280His
ENST00000595577.1:n.344G>T
ENST00000597442.5:n.90G>T
NM_000064.3:c.840G>T NP_000055.2:p.Gln280His
NM_000064.4:c.840G>T MANE Select NP_000055.2:p.Gln280His