Canonical Allele Identifier: CA5252844
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 458329
ClinVar RCV Id: RCV002231257
dbSNP Id: rs149065210

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127819955C>T , CM000671.2:g.127819955C>T GRCh38
NC_000009.11:g.130582234C>T , CM000671.1:g.130582234C>T GRCh37
NC_000009.10:g.129622055C>T NCBI36
NG_009551.1:g.39814G>A , LRG_589:g.39814G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.671G>A ENSP00000479015.1:p.Arg224His
ENST00000373203.9:c.1217G>A MANE Select ENSP00000362299.4:p.Arg406His
ENST00000344849.4:c.1217G>A ENSP00000341917.3:p.Arg406His
ENST00000373203.8:c.1217G>A ENSP00000362299.4:p.Arg406His
ENST00000480266.5:c.671G>A ENSP00000479015.1:p.Arg224His
ENST00000486329.1:n.185G>A
NM_000118.3:c.1217G>A , LRG_589t1:c.1217G>A NP_000109.1:p.Arg406His
NM_001114753.2:c.1217G>A , LRG_589t2:c.1217G>A NP_001108225.1:p.Arg406His
NM_001278138.1:c.671G>A NP_001265067.1:p.Arg224His
NR_136302.1:n.1569-1240C>T
NM_001114753.3:c.1217G>A MANE Select NP_001108225.1:p.Arg406His
NM_001278138.2:c.671G>A NP_001265067.1:p.Arg224His