Canonical Allele Identifier: CA1879998178
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1829089312

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127853899T>G , CM000671.2:g.127853899T>G GRCh38
NC_000009.11:g.130616178T>G , CM000671.1:g.130616178T>G GRCh37
NC_000009.10:g.129655999T>G NCBI36
NG_009551.1:g.5870A>C , LRG_589:g.5870A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.67+390A>C MANE Select ENSP00000362299.4:n.67+390A>C
ENST00000344849.4:c.67+390A>C ENSP00000341917.3:n.67+390A>C
ENST00000373203.8:c.67+390A>C ENSP00000362299.4:n.67+390A>C
NM_000118.3:c.67+390A>C , LRG_589t1:c.67+390A>C NP_000109.1:n.67+390A>C
NM_001114753.2:c.67+390A>C , LRG_589t2:c.67+390A>C NP_001108225.1:n.67+390A>C
NM_001114753.3:c.67+390A>C MANE Select NP_001108225.1:n.67+390A>C