Canonical Allele Identifier: CA324406

Gene: ENG

Linked Data

• ClinVar Variation Id: 213211
• ClinVar RCV Id: RCV000199857 ; RCV000702018 ; RCV002345703
• dbSNP Id: rs863223537
• gnomAD v4: 9-127825822-G-A
• MyVariant Identifiers: chr9:g.130588101G>A (hg19) ; chr9:g.127825822G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825822G>A , CM000671.2:g.127825822G>A	GRCh38
NC_000009.11:g.130588101G>A , CM000671.1:g.130588101G>A	GRCh37
NC_000009.10:g.129627922G>A	NCBI36
NG_009551.1:g.33947C>T , LRG_589:g.33947C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.16C>T	ENSP00000479015.1:p.Gln6Ter
ENST00000373203.9:c.562C>T MANE Select	ENSP00000362299.4:p.Gln188Ter
ENST00000344849.4:c.562C>T	ENSP00000341917.3:p.Gln188Ter
ENST00000373203.8:c.562C>T	ENSP00000362299.4:p.Gln188Ter
ENST00000462196.1:n.462C>T
ENST00000480266.5:c.16C>T	ENSP00000479015.1:p.Gln6Ter
NM_000118.3:c.562C>T , LRG_589t1:c.562C>T	NP_000109.1:p.Gln188Ter
NM_001114753.2:c.562C>T , LRG_589t2:c.562C>T	NP_001108225.1:p.Gln188Ter
NM_001278138.1:c.16C>T	NP_001265067.1:p.Gln6Ter
XR_001746952.2:n.82+364G>A
NM_001114753.3:c.562C>T MANE Select	NP_001108225.1:p.Gln188Ter
NM_001278138.2:c.16C>T	NP_001265067.1:p.Gln6Ter