Canonical Allele Identifier: CA403642640

Gene: C3

Linked Data

• gnomAD v4: 19-6713463-C-T
• MyVariant Identifiers: chr19:g.6713474C>T (hg19) ; chr19:g.6713463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6713463C>T , CM000681.2:g.6713463C>T	GRCh38
NC_000019.9:g.6713474C>T , CM000681.1:g.6713474C>T	GRCh37
NC_000019.8:g.6664474C>T	NCBI36
NG_009557.1:g.12189G>A , LRG_27:g.12189G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695652.1:c.697G>A	ENSP00000512083.1:p.Gly233Arg
ENST00000695692.1:n.144G>A
ENST00000245907.11:c.820G>A MANE Select	ENSP00000245907.4:p.Gly274Arg
ENST00000245907.10:c.820G>A	ENSP00000245907.4:p.Gly274Arg
ENST00000595577.1:n.324G>A
ENST00000597442.5:n.70G>A
NM_000064.3:c.820G>A	NP_000055.2:p.Gly274Arg
NM_000064.4:c.820G>A MANE Select	NP_000055.2:p.Gly274Arg