Canonical Allele Identifier: CA374972121

Gene: ENG

Linked Data

• ClinVar Variation Id: 949981
• ClinVar RCV Id: RCV001221584
• dbSNP Id: rs1830302512
• gnomAD v4: 9-127816009-T-C
• MyVariant Identifiers: chr9:g.130578288T>C (hg19) ; chr9:g.127816009T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127816009T>C , CM000671.2:g.127816009T>C	GRCh38
NC_000009.11:g.130578288T>C , CM000671.1:g.130578288T>C	GRCh37
NC_000009.10:g.129618109T>C	NCBI36
NG_009551.1:g.43760A>G , LRG_589:g.43760A>G
NG_023245.1:g.18135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1240A>G	ENSP00000479015.1:p.Thr414Ala
ENST00000373203.9:c.1786A>G MANE Select	ENSP00000362299.4:p.Thr596Ala
ENST00000344849.4:c.1786A>G	ENSP00000341917.3:p.Thr596Ala
ENST00000373203.8:c.1786A>G	ENSP00000362299.4:p.Thr596Ala
ENST00000480266.5:c.1240A>G	ENSP00000479015.1:p.Thr414Ala
NM_000118.3:c.1786A>G , LRG_589t1:c.1786A>G	NP_000109.1:p.Thr596Ala
NM_001114753.2:c.1786A>G , LRG_589t2:c.1786A>G	NP_001108225.1:p.Thr596Ala
NM_001278138.1:c.1240A>G	NP_001265067.1:p.Thr414Ala
NM_001114753.3:c.1786A>G MANE Select	NP_001108225.1:p.Thr596Ala
NM_001278138.2:c.1240A>G	NP_001265067.1:p.Thr414Ala