Canonical Allele Identifier: CA860197685

Gene: ENG

Linked Data

• dbSNP Id: rs982407252
• gnomAD v3: 9-127825617-C-A
• gnomAD v4: 9-127825617-C-A
• MyVariant Identifiers: chr9:g.130587896C>A (hg19) ; chr9:g.127825617C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825617C>A , CM000671.2:g.127825617C>A	GRCh38
NC_000009.11:g.130587896C>A , CM000671.1:g.130587896C>A	GRCh37
NC_000009.10:g.129627717C>A	NCBI36
NG_009551.1:g.34152G>T , LRG_589:g.34152G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.143+78G>T	ENSP00000479015.1:n.143+78G>T
ENST00000373203.9:c.689+78G>T MANE Select	ENSP00000362299.4:n.689+78G>T
ENST00000344849.4:c.689+78G>T	ENSP00000341917.3:n.689+78G>T
ENST00000373203.8:c.689+78G>T	ENSP00000362299.4:n.689+78G>T
ENST00000480266.5:c.143+78G>T	ENSP00000479015.1:n.143+78G>T
NM_000118.3:c.689+78G>T , LRG_589t1:c.689+78G>T	NP_000109.1:n.689+78G>T
NM_001114753.2:c.689+78G>T , LRG_589t2:c.689+78G>T	NP_001108225.1:n.689+78G>T
NM_001278138.1:c.143+78G>T	NP_001265067.1:n.143+78G>T
XR_001746952.2:n.82+159C>A
NM_001114753.3:c.689+78G>T MANE Select	NP_001108225.1:n.689+78G>T
NM_001278138.2:c.143+78G>T	NP_001265067.1:n.143+78G>T