Canonical Allele Identifier: CA505193106
Gene: C3 HGNC NCBI

Linked Data

gnomAD v4: 19-6713446-T-C
MyVariant Identifiers: chr19:g.6713457T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.6713446T>C , CM000681.2:g.6713446T>C GRCh38
NC_000019.9:g.6713457T>C , CM000681.1:g.6713457T>C GRCh37
NC_000019.8:g.6664457T>C NCBI36
NG_009557.1:g.12206A>G , LRG_27:g.12206A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000695652.1:c.714A>G ENSP00000512083.1:p.Glu238=
ENST00000695692.1:n.161A>G
ENST00000245907.11:c.837A>G MANE Select ENSP00000245907.4:p.Glu279=
ENST00000245907.10:c.837A>G ENSP00000245907.4:p.Glu279=
ENST00000595577.1:n.341A>G
ENST00000597442.5:n.87A>G
NM_000064.3:c.837A>G NP_000055.2:p.Glu279=
NM_000064.4:c.837A>G MANE Select NP_000055.2:p.Glu279=