Canonical Allele Identifier: CA200300801

Gene: ENG

Linked Data

• dbSNP Id: rs953652893
• gnomAD v3: 9-127815340-A-C
• gnomAD v4: 9-127815340-A-C
• MyVariant Identifiers: chr9:g.130577619A>C (hg19) ; chr9:g.127815340A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815340A>C , CM000671.2:g.127815340A>C	GRCh38
NC_000009.11:g.130577619A>C , CM000671.1:g.130577619A>C	GRCh37
NC_000009.10:g.129617440A>C	NCBI36
NG_009551.1:g.44429T>G , LRG_589:g.44429T>G
NG_023245.1:g.17466A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*342T>G	ENSP00000479015.1:n.*342T>G
ENST00000373203.9:c.*342T>G MANE Select	ENSP00000362299.4:n.*342T>G
ENST00000344849.4:c.*577T>G	ENSP00000341917.3:n.*577T>G
ENST00000373203.8:c.*342T>G	ENSP00000362299.4:n.*342T>G
ENST00000480266.5:c.*342T>G	ENSP00000479015.1:n.*342T>G
NM_000118.3:c.*577T>G , LRG_589t1:c.*577T>G	NP_000109.1:n.*577T>G
NM_001114753.2:c.*342T>G , LRG_589t2:c.*342T>G	NP_001108225.1:n.*342T>G
NM_001278138.1:c.*342T>G	NP_001265067.1:n.*342T>G
NM_001114753.3:c.*342T>G MANE Select	NP_001108225.1:n.*342T>G
NM_001278138.2:c.*342T>G	NP_001265067.1:n.*342T>G