Canonical Allele Identifier: CA16618750
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 419982
ClinVar RCV Id: RCV002481510
dbSNP Id: rs1064794220
MyVariant Identifiers: chr9:g.130587611C>A (hg19) chr9:g.127825332C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825332C>A , CM000671.2:g.127825332C>A GRCh38
NC_000009.11:g.130587611C>A , CM000671.1:g.130587611C>A GRCh37
NC_000009.10:g.129627432C>A NCBI36
NG_009551.1:g.34437G>T , LRG_589:g.34437G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.169G>T ENSP00000479015.1:p.Glu57Ter
ENST00000373203.9:c.715G>T MANE Select ENSP00000362299.4:p.Glu239Ter
ENST00000344849.4:c.715G>T ENSP00000341917.3:p.Glu239Ter
ENST00000373203.8:c.715G>T ENSP00000362299.4:p.Glu239Ter
ENST00000480266.5:c.169G>T ENSP00000479015.1:p.Glu57Ter
NM_000118.3:c.715G>T , LRG_589t1:c.715G>T NP_000109.1:p.Glu239Ter
NM_001114753.2:c.715G>T , LRG_589t2:c.715G>T NP_001108225.1:p.Glu239Ter
NM_001278138.1:c.169G>T NP_001265067.1:p.Glu57Ter
NM_001114753.3:c.715G>T MANE Select NP_001108225.1:p.Glu239Ter
NM_001278138.2:c.169G>T NP_001265067.1:p.Glu57Ter
Search 100 bp 5'
Search 100 bp 3'