Canonical Allele Identifier: CA467232207

Gene: ENG

Linked Data

• ClinVar Variation Id: 2566913
• ClinVar RCV Id: RCV003278245
• gnomAD v4: 9-127829735-A-G
• MyVariant Identifiers: chr9:g.130592014A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127829735A>G , CM000671.2:g.127829735A>G	GRCh38
NC_000009.11:g.130592014A>G , CM000671.1:g.130592014A>G	GRCh37
NC_000009.10:g.129631835A>G	NCBI36
NG_009551.1:g.30034T>C , LRG_589:g.30034T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-235T>C	ENSP00000479015.1:n.-235T>C
ENST00000373203.9:c.312T>C MANE Select	ENSP00000362299.4:p.Ser104=
ENST00000344849.4:c.312T>C	ENSP00000341917.3:p.Ser104=
ENST00000373203.8:c.312T>C	ENSP00000362299.4:p.Ser104=
ENST00000462196.1:n.70T>C
ENST00000480266.5:c.-235T>C	ENSP00000479015.1:n.-235T>C
NM_000118.3:c.312T>C , LRG_589t1:c.312T>C	NP_000109.1:p.Ser104=
NM_001114753.2:c.312T>C , LRG_589t2:c.312T>C	NP_001108225.1:p.Ser104=
NM_001278138.1:c.-235T>C	NP_001265067.1:n.-235T>C
XR_001746952.2:n.83-2663A>G
NM_001114753.3:c.312T>C MANE Select	NP_001108225.1:p.Ser104=
NM_001278138.2:c.-235T>C	NP_001265067.1:n.-235T>C