Canonical Allele Identifier: CA374981694

Gene: ENG

Linked Data

• ClinVar Variation Id: 1056057
• ClinVar RCV Id: RCV001364828
• dbSNP Id: rs2131886016
• gnomAD v4: 9-127824411-T-C
• MyVariant Identifiers: chr9:g.130586690T>C (hg19) ; chr9:g.127824411T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824411T>C , CM000671.2:g.127824411T>C	GRCh38
NC_000009.11:g.130586690T>C , CM000671.1:g.130586690T>C	GRCh37
NC_000009.10:g.129626511T>C	NCBI36
NG_009551.1:g.35358A>G , LRG_589:g.35358A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.481A>G	ENSP00000479015.1:p.Thr161Ala
ENST00000373203.9:c.1027A>G MANE Select	ENSP00000362299.4:p.Thr343Ala
ENST00000344849.4:c.1027A>G	ENSP00000341917.3:p.Thr343Ala
ENST00000373203.8:c.1027A>G	ENSP00000362299.4:p.Thr343Ala
ENST00000480266.5:c.481A>G	ENSP00000479015.1:p.Thr161Ala
NM_000118.3:c.1027A>G , LRG_589t1:c.1027A>G	NP_000109.1:p.Thr343Ala
NM_001114753.2:c.1027A>G , LRG_589t2:c.1027A>G	NP_001108225.1:p.Thr343Ala
NM_001278138.1:c.481A>G	NP_001265067.1:p.Thr161Ala
NM_001114753.3:c.1027A>G MANE Select	NP_001108225.1:p.Thr343Ala
NM_001278138.2:c.481A>G	NP_001265067.1:p.Thr161Ala