Canonical Allele Identifier: CA467474697
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 426045
ClinVar RCV Id: RCV000488489
dbSNP Id: rs1085307434

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127816075A>G , CM000671.2:g.127816075A>G GRCh38
NC_000009.11:g.130578354A>G , CM000671.1:g.130578354A>G GRCh37
NC_000009.10:g.129618175A>G NCBI36
NG_009551.1:g.43694T>C , LRG_589:g.43694T>C
NG_023245.1:g.18201A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1196-22T>C ENSP00000479015.1:n.1196-22T>C
ENST00000373203.9:c.1742-22T>C MANE Select ENSP00000362299.4:n.1742-22T>C
ENST00000344849.4:c.1742-22T>C ENSP00000341917.3:n.1742-22T>C
ENST00000373203.8:c.1742-22T>C ENSP00000362299.4:n.1742-22T>C
ENST00000480266.5:c.1196-22T>C ENSP00000479015.1:n.1196-22T>C
NM_000118.3:c.1742-22T>C , LRG_589t1:c.1742-22T>C NP_000109.1:n.1742-22T>C
NM_001114753.2:c.1742-22T>C , LRG_589t2:c.1742-22T>C NP_001108225.1:n.1742-22T>C
NM_001278138.1:c.1196-22T>C NP_001265067.1:n.1196-22T>C
XM_011519273.1:c.-504A>G XP_011517575.1:n.-504A>G
NR_136302.1:n.10A>G
NM_001114753.3:c.1742-22T>C MANE Select NP_001108225.1:n.1742-22T>C
NM_001278138.2:c.1196-22T>C NP_001265067.1:n.1196-22T>C