Canonical Allele Identifier: CA5252606

Gene: ENG

Linked Data

• dbSNP Id: rs371104611
• ExAC: 9:130578170 C / T
• gnomAD v2: 9-130578170-C-T
• gnomAD v4: 9-127815891-C-T
• MyVariant Identifiers: chr9:g.130578170C>T (hg19) ; chr9:g.127815891C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815891C>T , CM000671.2:g.127815891C>T	GRCh38
NC_000009.11:g.130578170C>T , CM000671.1:g.130578170C>T	GRCh37
NC_000009.10:g.129617991C>T	NCBI36
NG_009551.1:g.43878G>A , LRG_589:g.43878G>A
NG_023245.1:g.18017C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1306+52G>A	ENSP00000479015.1:n.1306+52G>A
ENST00000373203.9:c.1852+52G>A MANE Select	ENSP00000362299.4:n.1852+52G>A
ENST00000344849.4:c.*26G>A	ENSP00000341917.3:n.*26G>A
ENST00000373203.8:c.1852+52G>A	ENSP00000362299.4:n.1852+52G>A
ENST00000480266.5:c.1306+52G>A	ENSP00000479015.1:n.1306+52G>A
NM_000118.3:c.*26G>A , LRG_589t1:c.*26G>A	NP_000109.1:n.*26G>A
NM_001114753.2:c.1852+52G>A , LRG_589t2:c.1852+52G>A	NP_001108225.1:n.1852+52G>A
NM_001278138.1:c.1306+52G>A	NP_001265067.1:n.1306+52G>A
NM_001114753.3:c.1852+52G>A MANE Select	NP_001108225.1:n.1852+52G>A
NM_001278138.2:c.1306+52G>A	NP_001265067.1:n.1306+52G>A