Canonical Allele Identifier: CA374977938

Gene: ENG

Linked Data

• COSMIC: COSM4871437
• MyVariant Identifiers: chr9:g.130581107T>C (hg19) ; chr9:g.127818828T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818828T>C , CM000671.2:g.127818828T>C	GRCh38
NC_000009.11:g.130581107T>C , CM000671.1:g.130581107T>C	GRCh37
NC_000009.10:g.129620928T>C	NCBI36
NG_009551.1:g.40941A>G , LRG_589:g.40941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.770A>G	ENSP00000479015.1:p.Lys257Arg
ENST00000373203.9:c.1316A>G MANE Select	ENSP00000362299.4:p.Lys439Arg
ENST00000344849.4:c.1316A>G	ENSP00000341917.3:p.Lys439Arg
ENST00000373203.8:c.1316A>G	ENSP00000362299.4:p.Lys439Arg
ENST00000480266.5:c.770A>G	ENSP00000479015.1:p.Lys257Arg
NM_000118.3:c.1316A>G , LRG_589t1:c.1316A>G	NP_000109.1:p.Lys439Arg
NM_001114753.2:c.1316A>G , LRG_589t2:c.1316A>G	NP_001108225.1:p.Lys439Arg
NM_001278138.1:c.770A>G	NP_001265067.1:p.Lys257Arg
NR_136302.1:n.1568+117T>C
NM_001114753.3:c.1316A>G MANE Select	NP_001108225.1:p.Lys439Arg
NM_001278138.2:c.770A>G	NP_001265067.1:p.Lys257Arg