Canonical Allele Identifier: CA1139659922

Gene: ENG

Linked Data

• ClinVar Variation Id: 912985
• ClinVar RCV Id: RCV001166405
• dbSNP Id: rs1830273682

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815152A>T , CM000671.2:g.127815152A>T	GRCh38
NC_000009.11:g.130577431A>T , CM000671.1:g.130577431A>T	GRCh37
NC_000009.10:g.129617252A>T	NCBI36
NG_009551.1:g.44617T>A , LRG_589:g.44617T>A
NG_023245.1:g.17278A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*530T>A	ENSP00000479015.1:n.*530T>A
ENST00000373203.9:c.*530T>A MANE Select	ENSP00000362299.4:n.*530T>A
ENST00000344849.4:c.*765T>A	ENSP00000341917.3:n.*765T>A
ENST00000373203.8:c.*530T>A	ENSP00000362299.4:n.*530T>A
ENST00000480266.5:c.*530T>A	ENSP00000479015.1:n.*530T>A
NM_000118.3:c.*765T>A , LRG_589t1:c.*765T>A	NP_000109.1:n.*765T>A
NM_001114753.2:c.*530T>A , LRG_589t2:c.*530T>A	NP_001108225.1:n.*530T>A
NM_001278138.1:c.*530T>A	NP_001265067.1:n.*530T>A
NM_001114753.3:c.*530T>A MANE Select	NP_001108225.1:n.*530T>A
NM_001278138.2:c.*530T>A	NP_001265067.1:n.*530T>A