Canonical Allele Identifier: CA2691805847

Gene: ENG

Linked Data

• ClinVar Variation Id: 2790195
• ClinVar RCV Id: RCV003760061
• gnomAD v4: 9-127815920-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815920C>T , CM000671.2:g.127815920C>T	GRCh38
NC_000009.11:g.130578199C>T , CM000671.1:g.130578199C>T	GRCh37
NC_000009.10:g.129618020C>T	NCBI36
NG_009551.1:g.43849G>A , LRG_589:g.43849G>A
NG_023245.1:g.18046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1306+23G>A	ENSP00000479015.1:n.1306+23G>A
ENST00000373203.9:c.1852+23G>A MANE Select	ENSP00000362299.4:n.1852+23G>A
ENST00000344849.4:c.1875G>A	ENSP00000341917.3:p.Gln625=
ENST00000373203.8:c.1852+23G>A	ENSP00000362299.4:n.1852+23G>A
ENST00000480266.5:c.1306+23G>A	ENSP00000479015.1:n.1306+23G>A
NM_000118.3:c.1875G>A , LRG_589t1:c.1875G>A	NP_000109.1:p.Gln625=
NM_001114753.2:c.1852+23G>A , LRG_589t2:c.1852+23G>A	NP_001108225.1:n.1852+23G>A
NM_001278138.1:c.1306+23G>A	NP_001265067.1:n.1306+23G>A
NM_001114753.3:c.1852+23G>A MANE Select	NP_001108225.1:n.1852+23G>A
NM_001278138.2:c.1306+23G>A	NP_001265067.1:n.1306+23G>A