Canonical Allele Identifier: CA200300738

Gene: ENG

Linked Data

• dbSNP Id: rs763238389
• gnomAD v3: 9-127815289-C-A
• gnomAD v4: 9-127815289-C-A
• MyVariant Identifiers: chr9:g.130577568C>A (hg19) ; chr9:g.127815289C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815289C>A , CM000671.2:g.127815289C>A	GRCh38
NC_000009.11:g.130577568C>A , CM000671.1:g.130577568C>A	GRCh37
NC_000009.10:g.129617389C>A	NCBI36
NG_009551.1:g.44480G>T , LRG_589:g.44480G>T
NG_023245.1:g.17415C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*393G>T	ENSP00000479015.1:n.*393G>T
ENST00000373203.9:c.*393G>T MANE Select	ENSP00000362299.4:n.*393G>T
ENST00000344849.4:c.*628G>T	ENSP00000341917.3:n.*628G>T
ENST00000373203.8:c.*393G>T	ENSP00000362299.4:n.*393G>T
ENST00000480266.5:c.*393G>T	ENSP00000479015.1:n.*393G>T
NM_000118.3:c.*628G>T , LRG_589t1:c.*628G>T	NP_000109.1:n.*628G>T
NM_001114753.2:c.*393G>T , LRG_589t2:c.*393G>T	NP_001108225.1:n.*393G>T
NM_001278138.1:c.*393G>T	NP_001265067.1:n.*393G>T
NM_001114753.3:c.*393G>T MANE Select	NP_001108225.1:n.*393G>T
NM_001278138.2:c.*393G>T	NP_001265067.1:n.*393G>T