Canonical Allele Identifier: CA403620120

Gene: C3

Linked Data

• gnomAD v4: 19-6686264-C-G
• MyVariant Identifiers: chr19:g.6686275C>G (hg19) ; chr19:g.6686264C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6686264C>G , CM000681.2:g.6686264C>G	GRCh38
NC_000019.9:g.6686275C>G , CM000681.1:g.6686275C>G	GRCh37
NC_000019.8:g.6637275C>G	NCBI36
NG_009557.1:g.39388G>C , LRG_27:g.39388G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.2018G>C
ENST00000695652.1:c.3547G>C	ENSP00000512083.1:p.Gly1183Arg
ENST00000695653.1:c.1579G>C	ENSP00000512084.1:p.Gly527Arg
ENST00000695654.1:c.2695G>C	ENSP00000512085.1:p.Gly899Arg
ENST00000695655.1:c.2611G>C	ENSP00000512086.1:n.2611G>C
ENST00000695692.1:n.3034G>C
ENST00000245907.11:c.3670G>C MANE Select	ENSP00000245907.4:p.Gly1224Arg
ENST00000245907.10:c.3670G>C	ENSP00000245907.4:p.Gly1224Arg
ENST00000596238.1:n.113G>C
ENST00000601008.1:c.241+482G>C	ENSP00000471384.1:n.241+482G>C
NM_000064.3:c.3670G>C	NP_000055.2:p.Gly1224Arg
NM_000064.4:c.3670G>C MANE Select	NP_000055.2:p.Gly1224Arg