Canonical Allele Identifier: CA295805

Gene: ENG

Linked Data

• ClinVar Variation Id: 137209
• ClinVar RCV Id: RCV000155540 ; RCV000321720 ; RCV002381438 ; RCV001515050
• dbSNP Id: rs3739817
• ExAC: 9:130586688 G / A
• gnomAD v2: 9-130586688-G-A
• gnomAD v3: 9-127824409-G-A
• gnomAD v4: 9-127824409-G-A
• MyVariant Identifiers: chr9:g.130586688G>A (hg19) ; chr9:g.127824409G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824409G>A , CM000671.2:g.127824409G>A	GRCh38
NC_000009.11:g.130586688G>A , CM000671.1:g.130586688G>A	GRCh37
NC_000009.10:g.129626509G>A	NCBI36
NG_009551.1:g.35360C>T , LRG_589:g.35360C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.483C>T	ENSP00000479015.1:p.Thr161=
ENST00000373203.9:c.1029C>T MANE Select	ENSP00000362299.4:p.Thr343=
ENST00000344849.4:c.1029C>T	ENSP00000341917.3:p.Thr343=
ENST00000373203.8:c.1029C>T	ENSP00000362299.4:p.Thr343=
ENST00000480266.5:c.483C>T	ENSP00000479015.1:p.Thr161=
NM_000118.3:c.1029C>T , LRG_589t1:c.1029C>T	NP_000109.1:p.Thr343=
NM_001114753.2:c.1029C>T , LRG_589t2:c.1029C>T	NP_001108225.1:p.Thr343=
NM_001278138.1:c.483C>T	NP_001265067.1:p.Thr161=
NM_001114753.3:c.1029C>T MANE Select	NP_001108225.1:p.Thr343=
NM_001278138.2:c.483C>T	NP_001265067.1:p.Thr161=