Canonical Allele Identifier: CA467230560

Gene: ENG

Linked Data

• ClinVar Variation Id: 1074391
• ClinVar RCV Id: RCV001387664
• dbSNP Id: rs1329127701
• MyVariant Identifiers: chr9:g.130586583C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824304C>G , CM000671.2:g.127824304C>G	GRCh38
NC_000009.11:g.130586583C>G , CM000671.1:g.130586583C>G	GRCh37
NC_000009.10:g.129626404C>G	NCBI36
NG_009551.1:g.35465G>C , LRG_589:g.35465G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.588G>C	ENSP00000479015.1:p.Ala196=
ENST00000373203.9:c.1134G>C MANE Select	ENSP00000362299.4:p.Ala378=
ENST00000344849.4:c.1134G>C	ENSP00000341917.3:p.Ala378=
ENST00000373203.8:c.1134G>C	ENSP00000362299.4:p.Ala378=
ENST00000480266.5:c.588G>C	ENSP00000479015.1:p.Ala196=
ENST00000486329.1:n.102G>C
NM_000118.3:c.1134G>C , LRG_589t1:c.1134G>C	NP_000109.1:p.Ala378=
NM_001114753.2:c.1134G>C , LRG_589t2:c.1134G>C	NP_001108225.1:p.Ala378=
NM_001278138.1:c.588G>C	NP_001265067.1:p.Ala196=
NM_001114753.3:c.1134G>C MANE Select	NP_001108225.1:p.Ala378=
NM_001278138.2:c.588G>C	NP_001265067.1:p.Ala196=