Canonical Allele Identifier: CA374978902

Gene: ENG

Linked Data

• ClinVar Variation Id: 430375
• ClinVar RCV Id: RCV000494433 ; RCV002455955 ; RCV002524049
• dbSNP Id: rs1131691931
• MyVariant Identifiers: chr9:g.130582306C>T (hg19) ; chr9:g.127820027C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127820027C>T , CM000671.2:g.127820027C>T	GRCh38
NC_000009.11:g.130582306C>T , CM000671.1:g.130582306C>T	GRCh37
NC_000009.10:g.129622127C>T	NCBI36
NG_009551.1:g.39742G>A , LRG_589:g.39742G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.599G>A	ENSP00000479015.1:p.Cys200Tyr
ENST00000373203.9:c.1145G>A MANE Select	ENSP00000362299.4:p.Cys382Tyr
ENST00000344849.4:c.1145G>A	ENSP00000341917.3:p.Cys382Tyr
ENST00000373203.8:c.1145G>A	ENSP00000362299.4:p.Cys382Tyr
ENST00000480266.5:c.599G>A	ENSP00000479015.1:p.Cys200Tyr
ENST00000486329.1:n.113G>A
NM_000118.3:c.1145G>A , LRG_589t1:c.1145G>A	NP_000109.1:p.Cys382Tyr
NM_001114753.2:c.1145G>A , LRG_589t2:c.1145G>A	NP_001108225.1:p.Cys382Tyr
NM_001278138.1:c.599G>A	NP_001265067.1:p.Cys200Tyr
NR_136302.1:n.1569-1168C>T
NM_001114753.3:c.1145G>A MANE Select	NP_001108225.1:p.Cys382Tyr
NM_001278138.2:c.599G>A	NP_001265067.1:p.Cys200Tyr