Canonical Allele Identifier: CA374985673

Gene: ENG

Linked Data

• MyVariant Identifiers: chr9:g.130591973A>C (hg19) ; chr9:g.127829694A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829694A>C , CM000671.2:g.127829694A>C	GRCh38
NC_000009.11:g.130591973A>C , CM000671.1:g.130591973A>C	GRCh37
NC_000009.10:g.129631794A>C	NCBI36
NG_009551.1:g.30075T>G , LRG_589:g.30075T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-194T>G	ENSP00000479015.1:n.-194T>G
ENST00000373203.9:c.353T>G MANE Select	ENSP00000362299.4:p.Leu118Trp
ENST00000344849.4:c.353T>G	ENSP00000341917.3:p.Leu118Trp
ENST00000373203.8:c.353T>G	ENSP00000362299.4:p.Leu118Trp
ENST00000462196.1:n.111T>G
ENST00000480266.5:c.-194T>G	ENSP00000479015.1:n.-194T>G
NM_000118.3:c.353T>G , LRG_589t1:c.353T>G	NP_000109.1:p.Leu118Trp
NM_001114753.2:c.353T>G , LRG_589t2:c.353T>G	NP_001108225.1:p.Leu118Trp
NM_001278138.1:c.-194T>G	NP_001265067.1:n.-194T>G
XR_001746952.2:n.83-2704A>C
NM_001114753.3:c.353T>G MANE Select	NP_001108225.1:p.Leu118Trp
NM_001278138.2:c.-194T>G	NP_001265067.1:n.-194T>G