Canonical Allele Identifier: CA403633957

Gene: C3

Linked Data

• COSMIC: COSM5391069
• MyVariant Identifiers: chr19:g.6697724C>A (hg19) ; chr19:g.6697713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6697713C>A , CM000681.2:g.6697713C>A	GRCh38
NC_000019.9:g.6697724C>A , CM000681.1:g.6697724C>A	GRCh37
NC_000019.8:g.6648724C>A	NCBI36
NG_009557.1:g.27939G>T , LRG_27:g.27939G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695651.1:n.870G>T
ENST00000695652.1:c.2399G>T	ENSP00000512083.1:p.Arg800Leu
ENST00000695653.1:c.431G>T	ENSP00000512084.1:p.Arg144Leu
ENST00000695654.1:c.1646G>T	ENSP00000512085.1:p.Arg549Leu
ENST00000695655.1:c.1463G>T	ENSP00000512086.1:n.1463G>T
ENST00000695692.1:n.1886G>T
ENST00000245907.11:c.2522G>T MANE Select	ENSP00000245907.4:p.Arg841Leu
ENST00000245907.10:c.2522G>T	ENSP00000245907.4:p.Arg841Leu
ENST00000594005.1:n.3G>T
ENST00000602053.1:n.570G>T
NM_000064.3:c.2522G>T	NP_000055.2:p.Arg841Leu
NM_000064.4:c.2522G>T MANE Select	NP_000055.2:p.Arg841Leu