Canonical Allele Identifier: CA374975894

Gene: ENG

Linked Data

• ClinVar Variation Id: 444099
• ClinVar RCV Id: RCV000513296
• dbSNP Id: rs1197761705
• MyVariant Identifiers: chr9:g.130580606G>T (hg19) ; chr9:g.127818327G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127818327G>T , CM000671.2:g.127818327G>T	GRCh38
NC_000009.11:g.130580606G>T , CM000671.1:g.130580606G>T	GRCh37
NC_000009.10:g.129620427G>T	NCBI36
NG_009551.1:g.41442C>A , LRG_589:g.41442C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.933C>A	ENSP00000479015.1:p.Cys311Ter
ENST00000373203.9:c.1479C>A MANE Select	ENSP00000362299.4:p.Cys493Ter
ENST00000344849.4:c.1479C>A	ENSP00000341917.3:p.Cys493Ter
ENST00000373203.8:c.1479C>A	ENSP00000362299.4:p.Cys493Ter
ENST00000480266.5:c.933C>A	ENSP00000479015.1:p.Cys311Ter
NM_000118.3:c.1479C>A , LRG_589t1:c.1479C>A	NP_000109.1:p.Cys493Ter
NM_001114753.2:c.1479C>A , LRG_589t2:c.1479C>A	NP_001108225.1:p.Cys493Ter
NM_001278138.1:c.933C>A	NP_001265067.1:p.Cys311Ter
NR_136302.1:n.1394G>T
NM_001114753.3:c.1479C>A MANE Select	NP_001108225.1:p.Cys493Ter
NM_001278138.2:c.933C>A	NP_001265067.1:p.Cys311Ter