Canonical Allele Identifier: CA200305667

Gene: ENG

Linked Data

• ClinVar Variation Id: 998642
• ClinVar RCV Id: RCV001294530
• dbSNP Id: rs771599199
• gnomAD v2: 9-130582316-G-T
• gnomAD v4: 9-127820037-G-T
• MyVariant Identifiers: chr9:g.130582316G>T (hg19) ; chr9:g.127820037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820037G>T , CM000671.2:g.127820037G>T	GRCh38
NC_000009.11:g.130582316G>T , CM000671.1:g.130582316G>T	GRCh37
NC_000009.10:g.129622137G>T	NCBI36
NG_009551.1:g.39732C>A , LRG_589:g.39732C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.589C>A	ENSP00000479015.1:p.His197Asn
ENST00000373203.9:c.1135C>A MANE Select	ENSP00000362299.4:p.His379Asn
ENST00000344849.4:c.1135C>A	ENSP00000341917.3:p.His379Asn
ENST00000373203.8:c.1135C>A	ENSP00000362299.4:p.His379Asn
ENST00000480266.5:c.589C>A	ENSP00000479015.1:p.His197Asn
ENST00000486329.1:n.103C>A
NM_000118.3:c.1135C>A , LRG_589t1:c.1135C>A	NP_000109.1:p.His379Asn
NM_001114753.2:c.1135C>A , LRG_589t2:c.1135C>A	NP_001108225.1:p.His379Asn
NM_001278138.1:c.589C>A	NP_001265067.1:p.His197Asn
NR_136302.1:n.1569-1158G>T
NM_001114753.3:c.1135C>A MANE Select	NP_001108225.1:p.His379Asn
NM_001278138.2:c.589C>A	NP_001265067.1:p.His197Asn