Canonical Allele Identifier: CA5252893

Gene: ENG

Linked Data

• dbSNP Id: rs367734769
• ExAC: 9:130586676 C / T
• gnomAD v2: 9-130586676-C-T
• gnomAD v3: 9-127824397-C-T
• gnomAD v4: 9-127824397-C-T
• MyVariant Identifiers: chr9:g.130586676C>T (hg19) ; chr9:g.127824397C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824397C>T , CM000671.2:g.127824397C>T	GRCh38
NC_000009.11:g.130586676C>T , CM000671.1:g.130586676C>T	GRCh37
NC_000009.10:g.129626497C>T	NCBI36
NG_009551.1:g.35372G>A , LRG_589:g.35372G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.495G>A	ENSP00000479015.1:p.Lys165=
ENST00000373203.9:c.1041G>A MANE Select	ENSP00000362299.4:p.Lys347=
ENST00000344849.4:c.1041G>A	ENSP00000341917.3:p.Lys347=
ENST00000373203.8:c.1041G>A	ENSP00000362299.4:p.Lys347=
ENST00000480266.5:c.495G>A	ENSP00000479015.1:p.Lys165=
ENST00000486329.1:n.9G>A
NM_000118.3:c.1041G>A , LRG_589t1:c.1041G>A	NP_000109.1:p.Lys347=
NM_001114753.2:c.1041G>A , LRG_589t2:c.1041G>A	NP_001108225.1:p.Lys347=
NM_001278138.1:c.495G>A	NP_001265067.1:p.Lys165=
NM_001114753.3:c.1041G>A MANE Select	NP_001108225.1:p.Lys347=
NM_001278138.2:c.495G>A	NP_001265067.1:p.Lys165=