Canonical Allele Identifier: CA5252585

Gene: ENG

Linked Data

• ClinVar Variation Id: 1782359
• ClinVar RCV Id: RCV002408314 ; RCV003418519
• dbSNP Id: rs758012489
• ExAC: 9:130578034 G / A
• gnomAD v2: 9-130578034-G-A
• gnomAD v3: 9-127815755-G-A
• gnomAD v4: 9-127815755-G-A
• MyVariant Identifiers: chr9:g.130578034G>A (hg19) ; chr9:g.127815755G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815755G>A , CM000671.2:g.127815755G>A	GRCh38
NC_000009.11:g.130578034G>A , CM000671.1:g.130578034G>A	GRCh37
NC_000009.10:g.129617855G>A	NCBI36
NG_009551.1:g.44014C>T , LRG_589:g.44014C>T
NG_023245.1:g.17881G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1358C>T	ENSP00000479015.1:p.Ser453Leu
ENST00000373203.9:c.1904C>T MANE Select	ENSP00000362299.4:p.Ser635Leu
ENST00000344849.4:c.*162C>T	ENSP00000341917.3:n.*162C>T
ENST00000373203.8:c.1904C>T	ENSP00000362299.4:p.Ser635Leu
ENST00000480266.5:c.1358C>T	ENSP00000479015.1:p.Ser453Leu
NM_000118.3:c.*162C>T , LRG_589t1:c.*162C>T	NP_000109.1:n.*162C>T
NM_001114753.2:c.1904C>T , LRG_589t2:c.1904C>T	NP_001108225.1:p.Ser635Leu
NM_001278138.1:c.1358C>T	NP_001265067.1:p.Ser453Leu
NM_001114753.3:c.1904C>T MANE Select	NP_001108225.1:p.Ser635Leu
NM_001278138.2:c.1358C>T	NP_001265067.1:p.Ser453Leu