Canonical Allele Identifier: CA16618750

Gene: ENG

Linked Data

• ClinVar Variation Id: 419982
• ClinVar RCV Id: RCV000484671 ; RCV000526610 ; RCV002481510
• dbSNP Id: rs1064794220
• MyVariant Identifiers: chr9:g.130587611C>A (hg19) ; chr9:g.127825332C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825332C>A , CM000671.2:g.127825332C>A	GRCh38
NC_000009.11:g.130587611C>A , CM000671.1:g.130587611C>A	GRCh37
NC_000009.10:g.129627432C>A	NCBI36
NG_009551.1:g.34437G>T , LRG_589:g.34437G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.169G>T	ENSP00000479015.1:p.Glu57Ter
ENST00000373203.9:c.715G>T MANE Select	ENSP00000362299.4:p.Glu239Ter
ENST00000344849.4:c.715G>T	ENSP00000341917.3:p.Glu239Ter
ENST00000373203.8:c.715G>T	ENSP00000362299.4:p.Glu239Ter
ENST00000480266.5:c.169G>T	ENSP00000479015.1:p.Glu57Ter
NM_000118.3:c.715G>T , LRG_589t1:c.715G>T	NP_000109.1:p.Glu239Ter
NM_001114753.2:c.715G>T , LRG_589t2:c.715G>T	NP_001108225.1:p.Glu239Ter
NM_001278138.1:c.169G>T	NP_001265067.1:p.Glu57Ter
NM_001114753.3:c.715G>T MANE Select	NP_001108225.1:p.Glu239Ter
NM_001278138.2:c.169G>T	NP_001265067.1:p.Glu57Ter