Canonical Allele Identifier: CA403633845

Gene: C3

Linked Data

• dbSNP Id: rs1193218278
• gnomAD v3: 19-6697684-G-A
• gnomAD v4: 19-6697684-G-A
• MyVariant Identifiers: chr19:g.6697695G>A (hg19) ; chr19:g.6697684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697684G>A , CM000681.2:g.6697684G>A	GRCh38
NC_000019.9:g.6697695G>A , CM000681.1:g.6697695G>A	GRCh37
NC_000019.8:g.6648695G>A	NCBI36
NG_009557.1:g.27968C>T , LRG_27:g.27968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.899C>T
ENST00000695652.1:c.2428C>T	ENSP00000512083.1:p.Leu810Phe
ENST00000695653.1:c.460C>T	ENSP00000512084.1:p.Leu154Phe
ENST00000695654.1:c.1675C>T	ENSP00000512085.1:p.Leu559Phe
ENST00000695655.1:c.1492C>T	ENSP00000512086.1:n.1492C>T
ENST00000695692.1:n.1915C>T
ENST00000245907.11:c.2551C>T MANE Select	ENSP00000245907.4:p.Leu851Phe
ENST00000245907.10:c.2551C>T	ENSP00000245907.4:p.Leu851Phe
ENST00000594005.1:n.32C>T
ENST00000602053.1:n.599C>T
NM_000064.3:c.2551C>T	NP_000055.2:p.Leu851Phe
NM_000064.4:c.2551C>T MANE Select	NP_000055.2:p.Leu851Phe