Canonical Allele Identifier: CA5253006

Gene: ENG

Linked Data

• ClinVar Variation Id: 1107839
• ClinVar RCV Id: RCV001433095
• dbSNP Id: rs780260845
• ExAC: 9:130587618 C / T
• gnomAD v2: 9-130587618-C-T
• gnomAD v3: 9-127825339-C-T
• gnomAD v4: 9-127825339-C-T
• MyVariant Identifiers: chr9:g.130587618C>T (hg19) ; chr9:g.127825339C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825339C>T , CM000671.2:g.127825339C>T	GRCh38
NC_000009.11:g.130587618C>T , CM000671.1:g.130587618C>T	GRCh37
NC_000009.10:g.129627439C>T	NCBI36
NG_009551.1:g.34430G>A , LRG_589:g.34430G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.162G>A	ENSP00000479015.1:p.Val54=
ENST00000373203.9:c.708G>A MANE Select	ENSP00000362299.4:p.Val236=
ENST00000344849.4:c.708G>A	ENSP00000341917.3:p.Val236=
ENST00000373203.8:c.708G>A	ENSP00000362299.4:p.Val236=
ENST00000480266.5:c.162G>A	ENSP00000479015.1:p.Val54=
NM_000118.3:c.708G>A , LRG_589t1:c.708G>A	NP_000109.1:p.Val236=
NM_001114753.2:c.708G>A , LRG_589t2:c.708G>A	NP_001108225.1:p.Val236=
NM_001278138.1:c.162G>A	NP_001265067.1:p.Val54=
NM_001114753.3:c.708G>A MANE Select	NP_001108225.1:p.Val236=
NM_001278138.2:c.162G>A	NP_001265067.1:p.Val54=