Canonical Allele Identifier: CA374989708
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 458346
ClinVar RCV Id: RCV002231266
dbSNP Id: rs267606783
MyVariant Identifiers: chr9:g.130616633A>C (hg19) chr9:g.127854354A>C (hg38)
ERepo: CA374989708/MONDO:0008535/136
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854354A>C , CM000671.2:g.127854354A>C GRCh38
NC_000009.11:g.130616633A>C , CM000671.1:g.130616633A>C GRCh37
NC_000009.10:g.129656454A>C NCBI36
NG_009551.1:g.5415T>G , LRG_589:g.5415T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000373203.9:c.2T>G MANE Select ENSP00000362299.4:p.Met1Arg
ENST00000344849.4:c.2T>G ENSP00000341917.3:p.Met1Arg
ENST00000373203.8:c.2T>G ENSP00000362299.4:p.Met1Arg
NM_000118.3:c.2T>G , LRG_589t1:c.2T>G NP_000109.1:p.Met1Arg
NM_001114753.2:c.2T>G , LRG_589t2:c.2T>G NP_001108225.1:p.Met1Arg
NM_001114753.3:c.2T>G MANE Select NP_001108225.1:p.Met1Arg
Search 100 bp 5'
Search 100 bp 3'