Canonical Allele Identifier: CA403633691

Gene: C3

Linked Data

• COSMIC: COSM1002998
• MyVariant Identifiers: chr19:g.6697668G>A (hg19) ; chr19:g.6697657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697657G>A , CM000681.2:g.6697657G>A	GRCh38
NC_000019.9:g.6697668G>A , CM000681.1:g.6697668G>A	GRCh37
NC_000019.8:g.6648668G>A	NCBI36
NG_009557.1:g.27995C>T , LRG_27:g.27995C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.926C>T
ENST00000695652.1:c.2455C>T	ENSP00000512083.1:p.Leu819Phe
ENST00000695653.1:c.487C>T	ENSP00000512084.1:p.Leu163Phe
ENST00000695654.1:c.1702C>T	ENSP00000512085.1:p.Leu568Phe
ENST00000695655.1:c.1519C>T	ENSP00000512086.1:n.1519C>T
ENST00000695692.1:n.1942C>T
ENST00000245907.11:c.2578C>T MANE Select	ENSP00000245907.4:p.Leu860Phe
ENST00000245907.10:c.2578C>T	ENSP00000245907.4:p.Leu860Phe
ENST00000594005.1:n.59C>T
NM_000064.3:c.2578C>T	NP_000055.2:p.Leu860Phe
NM_000064.4:c.2578C>T MANE Select	NP_000055.2:p.Leu860Phe