Canonical Allele Identifier: CA467228030

Gene: ENG

Linked Data

• ClinVar Variation Id: 2172411
• ClinVar RCV Id: RCV003097597
• MyVariant Identifiers: chr9:g.130582242A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819963A>G , CM000671.2:g.127819963A>G	GRCh38
NC_000009.11:g.130582242A>G , CM000671.1:g.130582242A>G	GRCh37
NC_000009.10:g.129622063A>G	NCBI36
NG_009551.1:g.39806T>C , LRG_589:g.39806T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.663T>C	ENSP00000479015.1:p.Phe221=
ENST00000373203.9:c.1209T>C MANE Select	ENSP00000362299.4:p.Phe403=
ENST00000344849.4:c.1209T>C	ENSP00000341917.3:p.Phe403=
ENST00000373203.8:c.1209T>C	ENSP00000362299.4:p.Phe403=
ENST00000480266.5:c.663T>C	ENSP00000479015.1:p.Phe221=
ENST00000486329.1:n.177T>C
NM_000118.3:c.1209T>C , LRG_589t1:c.1209T>C	NP_000109.1:p.Phe403=
NM_001114753.2:c.1209T>C , LRG_589t2:c.1209T>C	NP_001108225.1:p.Phe403=
NM_001278138.1:c.663T>C	NP_001265067.1:p.Phe221=
NR_136302.1:n.1569-1232A>G
NM_001114753.3:c.1209T>C MANE Select	NP_001108225.1:p.Phe403=
NM_001278138.2:c.663T>C	NP_001265067.1:p.Phe221=