Canonical Allele Identifier: CA5253030

Gene: ENG

Linked Data

• dbSNP Id: rs752958277
• ExAC: 9:130587670 G / T
• gnomAD v2: 9-130587670-G-T
• gnomAD v3: 9-127825391-G-T
• gnomAD v4: 9-127825391-G-T
• MyVariant Identifiers: chr9:g.130587670G>T (hg19) ; chr9:g.127825391G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825391G>T , CM000671.2:g.127825391G>T	GRCh38
NC_000009.11:g.130587670G>T , CM000671.1:g.130587670G>T	GRCh37
NC_000009.10:g.129627491G>T	NCBI36
NG_009551.1:g.34378C>A , LRG_589:g.34378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.144-34C>A	ENSP00000479015.1:n.144-34C>A
ENST00000373203.9:c.690-34C>A MANE Select	ENSP00000362299.4:n.690-34C>A
ENST00000344849.4:c.690-34C>A	ENSP00000341917.3:n.690-34C>A
ENST00000373203.8:c.690-34C>A	ENSP00000362299.4:n.690-34C>A
ENST00000480266.5:c.144-34C>A	ENSP00000479015.1:n.144-34C>A
NM_000118.3:c.690-34C>A , LRG_589t1:c.690-34C>A	NP_000109.1:n.690-34C>A
NM_001114753.2:c.690-34C>A , LRG_589t2:c.690-34C>A	NP_001108225.1:n.690-34C>A
NM_001278138.1:c.144-34C>A	NP_001265067.1:n.144-34C>A
XR_001746952.2:n.15G>T
NM_001114753.3:c.690-34C>A MANE Select	NP_001108225.1:n.690-34C>A
NM_001278138.2:c.144-34C>A	NP_001265067.1:n.144-34C>A