Canonical Allele Identifier: CA200313048

Gene: ENG

Linked Data

• ClinVar Variation Id: 1127842
• ClinVar RCV Id: RCV001460390 ; RCV004038587
• dbSNP Id: rs767171893
• gnomAD v4: 9-127824849-G-A
• MyVariant Identifiers: chr9:g.130587128G>A (hg19) ; chr9:g.127824849G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824849G>A , CM000671.2:g.127824849G>A	GRCh38
NC_000009.11:g.130587128G>A , CM000671.1:g.130587128G>A	GRCh37
NC_000009.10:g.129626949G>A	NCBI36
NG_009551.1:g.34920C>T , LRG_589:g.34920C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.396C>T	ENSP00000479015.1:p.Phe132=
ENST00000373203.9:c.942C>T MANE Select	ENSP00000362299.4:p.Phe314=
ENST00000344849.4:c.942C>T	ENSP00000341917.3:p.Phe314=
ENST00000373203.8:c.942C>T	ENSP00000362299.4:p.Phe314=
ENST00000480266.5:c.396C>T	ENSP00000479015.1:p.Phe132=
NM_000118.3:c.942C>T , LRG_589t1:c.942C>T	NP_000109.1:p.Phe314=
NM_001114753.2:c.942C>T , LRG_589t2:c.942C>T	NP_001108225.1:p.Phe314=
NM_001278138.1:c.396C>T	NP_001265067.1:p.Phe132=
NM_001114753.3:c.942C>T MANE Select	NP_001108225.1:p.Phe314=
NM_001278138.2:c.396C>T	NP_001265067.1:p.Phe132=