Canonical Allele Identifier: CA10582615

Gene: ENG

Linked Data

• ClinVar Variation Id: 237027
• ClinVar RCV Id: RCV000231233 ; RCV000427340 ; RCV002223199 ; RCV002494618 ; RCV002327101 ; RCV003422129
• dbSNP Id: rs878853657
• MyVariant Identifiers: chr9:g.130588865C>G (hg19) ; chr9:g.127826586C>G (hg38)
• ERepo: CA10582615/MONDO:0008535/136

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826586C>G , CM000671.2:g.127826586C>G	GRCh38
NC_000009.11:g.130588865C>G , CM000671.1:g.130588865C>G	GRCh37
NC_000009.10:g.129628686C>G	NCBI36
NG_009551.1:g.33183G>C , LRG_589:g.33183G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-100G>C	ENSP00000479015.1:n.-100G>C
ENST00000373203.9:c.447G>C MANE Select	ENSP00000362299.4:p.Trp149Cys
ENST00000344849.4:c.447G>C	ENSP00000341917.3:p.Trp149Cys
ENST00000373203.8:c.447G>C	ENSP00000362299.4:p.Trp149Cys
ENST00000462196.1:n.347G>C
ENST00000480266.5:c.-100G>C	ENSP00000479015.1:n.-100G>C
NM_000118.3:c.447G>C , LRG_589t1:c.447G>C	NP_000109.1:p.Trp149Cys
NM_001114753.2:c.447G>C , LRG_589t2:c.447G>C	NP_001108225.1:p.Trp149Cys
NM_001278138.1:c.-100G>C	NP_001265067.1:n.-100G>C
XR_001746952.2:n.82+1128C>G
NM_001114753.3:c.447G>C MANE Select	NP_001108225.1:p.Trp149Cys
NM_001278138.2:c.-100G>C	NP_001265067.1:n.-100G>C