Canonical Allele Identifier: CA2691807286

Gene: ENG

Linked Data

• gnomAD v4: 9-127824274-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824274C>A , CM000671.2:g.127824274C>A	GRCh38
NC_000009.11:g.130586553C>A , CM000671.1:g.130586553C>A	GRCh37
NC_000009.10:g.129626374C>A	NCBI36
NG_009551.1:g.35495G>T , LRG_589:g.35495G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.588+30G>T	ENSP00000479015.1:n.588+30G>T
ENST00000373203.9:c.1134+30G>T MANE Select	ENSP00000362299.4:n.1134+30G>T
ENST00000344849.4:c.1134+30G>T	ENSP00000341917.3:n.1134+30G>T
ENST00000373203.8:c.1134+30G>T	ENSP00000362299.4:n.1134+30G>T
ENST00000480266.5:c.588+30G>T	ENSP00000479015.1:n.588+30G>T
ENST00000486329.1:n.102+30G>T
NM_000118.3:c.1134+30G>T , LRG_589t1:c.1134+30G>T	NP_000109.1:n.1134+30G>T
NM_001114753.2:c.1134+30G>T , LRG_589t2:c.1134+30G>T	NP_001108225.1:n.1134+30G>T
NM_001278138.1:c.588+30G>T	NP_001265067.1:n.588+30G>T
NM_001114753.3:c.1134+30G>T MANE Select	NP_001108225.1:n.1134+30G>T
NM_001278138.2:c.588+30G>T	NP_001265067.1:n.588+30G>T