Canonical Allele Identifier: CA5253001

Gene: ENG

Linked Data

• ClinVar Variation Id: 439648
• ClinVar RCV Id: RCV000508217 ; RCV001370738
• dbSNP Id: rs761827492
• ExAC: 9:130587599 C / T
• gnomAD v2: 9-130587599-C-T
• gnomAD v3: 9-127825320-C-T
• gnomAD v4: 9-127825320-C-T
• MyVariant Identifiers: chr9:g.130587599C>T (hg19) ; chr9:g.127825320C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825320C>T , CM000671.2:g.127825320C>T	GRCh38
NC_000009.11:g.130587599C>T , CM000671.1:g.130587599C>T	GRCh37
NC_000009.10:g.129627420C>T	NCBI36
NG_009551.1:g.34449G>A , LRG_589:g.34449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.181G>A	ENSP00000479015.1:p.Ala61Thr
ENST00000373203.9:c.727G>A MANE Select	ENSP00000362299.4:p.Ala243Thr
ENST00000344849.4:c.727G>A	ENSP00000341917.3:p.Ala243Thr
ENST00000373203.8:c.727G>A	ENSP00000362299.4:p.Ala243Thr
ENST00000480266.5:c.181G>A	ENSP00000479015.1:p.Ala61Thr
NM_000118.3:c.727G>A , LRG_589t1:c.727G>A	NP_000109.1:p.Ala243Thr
NM_001114753.2:c.727G>A , LRG_589t2:c.727G>A	NP_001108225.1:p.Ala243Thr
NM_001278138.1:c.181G>A	NP_001265067.1:p.Ala61Thr
NM_001114753.3:c.727G>A MANE Select	NP_001108225.1:p.Ala243Thr
NM_001278138.2:c.181G>A	NP_001265067.1:p.Ala61Thr