Canonical Allele Identifier: CA374978704
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 1024161
ClinVar RCV Id: RCV001324312
dbSNP Id: rs1830434474

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127820001C>G , CM000671.2:g.127820001C>G GRCh38
NC_000009.11:g.130582280C>G , CM000671.1:g.130582280C>G GRCh37
NC_000009.10:g.129622101C>G NCBI36
NG_009551.1:g.39768G>C , LRG_589:g.39768G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.625G>C ENSP00000479015.1:p.Asp209His
ENST00000373203.9:c.1171G>C MANE Select ENSP00000362299.4:p.Asp391His
ENST00000344849.4:c.1171G>C ENSP00000341917.3:p.Asp391His
ENST00000373203.8:c.1171G>C ENSP00000362299.4:p.Asp391His
ENST00000480266.5:c.625G>C ENSP00000479015.1:p.Asp209His
ENST00000486329.1:n.139G>C
NM_000118.3:c.1171G>C , LRG_589t1:c.1171G>C NP_000109.1:p.Asp391His
NM_001114753.2:c.1171G>C , LRG_589t2:c.1171G>C NP_001108225.1:p.Asp391His
NM_001278138.1:c.625G>C NP_001265067.1:p.Asp209His
NR_136302.1:n.1569-1194C>G
NM_001114753.3:c.1171G>C MANE Select NP_001108225.1:p.Asp391His
NM_001278138.2:c.625G>C NP_001265067.1:p.Asp209His