Canonical Allele Identifier: CA2691805802

Gene: ENG

Linked Data

• gnomAD v4: 9-127815880-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815880C>T , CM000671.2:g.127815880C>T	GRCh38
NC_000009.11:g.130578159C>T , CM000671.1:g.130578159C>T	GRCh37
NC_000009.10:g.129617980C>T	NCBI36
NG_009551.1:g.43889G>A , LRG_589:g.43889G>A
NG_023245.1:g.18006C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1306+63G>A	ENSP00000479015.1:n.1306+63G>A
ENST00000373203.9:c.1852+63G>A MANE Select	ENSP00000362299.4:n.1852+63G>A
ENST00000344849.4:c.*37G>A	ENSP00000341917.3:n.*37G>A
ENST00000373203.8:c.1852+63G>A	ENSP00000362299.4:n.1852+63G>A
ENST00000480266.5:c.1306+63G>A	ENSP00000479015.1:n.1306+63G>A
NM_000118.3:c.*37G>A , LRG_589t1:c.*37G>A	NP_000109.1:n.*37G>A
NM_001114753.2:c.1852+63G>A , LRG_589t2:c.1852+63G>A	NP_001108225.1:n.1852+63G>A
NM_001278138.1:c.1306+63G>A	NP_001265067.1:n.1306+63G>A
NM_001114753.3:c.1852+63G>A MANE Select	NP_001108225.1:n.1852+63G>A
NM_001278138.2:c.1306+63G>A	NP_001265067.1:n.1306+63G>A