Canonical Allele Identifier: CA467474690

Gene: ENG

Linked Data

• ClinVar Variation Id: 1763942
• ClinVar RCV Id: RCV002447921
• dbSNP Id: rs1254020053
• gnomAD v2: 9-130587212-G-A
• gnomAD v4: 9-127824933-G-A
• MyVariant Identifiers: chr9:g.130587212G>A (hg19) ; chr9:g.127824933G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824933G>A , CM000671.2:g.127824933G>A	GRCh38
NC_000009.11:g.130587212G>A , CM000671.1:g.130587212G>A	GRCh37
NC_000009.10:g.129627033G>A	NCBI36
NG_009551.1:g.34836C>T , LRG_589:g.34836C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.312C>T	ENSP00000479015.1:p.Asn104=
ENST00000373203.9:c.858C>T MANE Select	ENSP00000362299.4:p.Asn286=
ENST00000344849.4:c.858C>T	ENSP00000341917.3:p.Asn286=
ENST00000373203.8:c.858C>T	ENSP00000362299.4:p.Asn286=
ENST00000480266.5:c.312C>T	ENSP00000479015.1:p.Asn104=
NM_000118.3:c.858C>T , LRG_589t1:c.858C>T	NP_000109.1:p.Asn286=
NM_001114753.2:c.858C>T , LRG_589t2:c.858C>T	NP_001108225.1:p.Asn286=
NM_001278138.1:c.312C>T	NP_001265067.1:p.Asn104=
NM_001114753.3:c.858C>T MANE Select	NP_001108225.1:p.Asn286=
NM_001278138.2:c.312C>T	NP_001265067.1:p.Asn104=