Canonical Allele Identifier: CA403642054
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6713194-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713194T>A , CM000681.2:g.6713194T>A GRCh38
NC_000019.9:g.6713205T>A , CM000681.1:g.6713205T>A GRCh37
NC_000019.8:g.6664205T>A NCBI36
NG_009557.1:g.12458A>T , LRG_27:g.12458A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.875A>T ENSP00000512083.1:p.His292Leu
ENST00000695654.1:c.122A>T ENSP00000512085.1:p.His41Leu
ENST00000695692.1:n.322A>T
ENST00000245907.11:c.998A>T MANE Select ENSP00000245907.4:p.His333Leu
ENST00000245907.10:c.998A>T ENSP00000245907.4:p.His333Leu
ENST00000594270.5:n.122A>T
ENST00000595577.1:n.502A>T
ENST00000597442.5:n.248A>T
NM_000064.3:c.998A>T NP_000055.2:p.His333Leu
NM_000064.4:c.998A>T MANE Select NP_000055.2:p.His333Leu