Canonical Allele Identifier: CA374978051

Gene: ENG

Linked Data

• ClinVar Variation Id: 449318
• ClinVar RCV Id: RCV000521330 ; RCV002384003 ; RCV003758805
• dbSNP Id: rs761353511
• gnomAD v4: 9-127819641-G-T
• MyVariant Identifiers: chr9:g.130581920G>T (hg19) ; chr9:g.127819641G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819641G>T , CM000671.2:g.127819641G>T	GRCh38
NC_000009.11:g.130581920G>T , CM000671.1:g.130581920G>T	GRCh37
NC_000009.10:g.129621741G>T	NCBI36
NG_009551.1:g.40128C>A , LRG_589:g.40128C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.746C>A	ENSP00000479015.1:p.Ser249Ter
ENST00000373203.9:c.1292C>A MANE Select	ENSP00000362299.4:p.Ser431Ter
ENST00000344849.4:c.1292C>A	ENSP00000341917.3:p.Ser431Ter
ENST00000373203.8:c.1292C>A	ENSP00000362299.4:p.Ser431Ter
ENST00000480266.5:c.746C>A	ENSP00000479015.1:p.Ser249Ter
ENST00000486329.1:n.260C>A
NM_000118.3:c.1292C>A , LRG_589t1:c.1292C>A	NP_000109.1:p.Ser431Ter
NM_001114753.2:c.1292C>A , LRG_589t2:c.1292C>A	NP_001108225.1:p.Ser431Ter
NM_001278138.1:c.746C>A	NP_001265067.1:p.Ser249Ter
NR_136302.1:n.1568+930G>T
NM_001114753.3:c.1292C>A MANE Select	NP_001108225.1:p.Ser431Ter
NM_001278138.2:c.746C>A	NP_001265067.1:p.Ser249Ter