Canonical Allele Identifier: CA467228019
Gene: ENG HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.130582233G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127819954G>C , CM000671.2:g.127819954G>C GRCh38
NC_000009.11:g.130582233G>C , CM000671.1:g.130582233G>C GRCh37
NC_000009.10:g.129622054G>C NCBI36
NG_009551.1:g.39815C>G , LRG_589:g.39815C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.672C>G ENSP00000479015.1:p.Arg224=
ENST00000373203.9:c.1218C>G MANE Select ENSP00000362299.4:p.Arg406=
ENST00000344849.4:c.1218C>G ENSP00000341917.3:p.Arg406=
ENST00000373203.8:c.1218C>G ENSP00000362299.4:p.Arg406=
ENST00000480266.5:c.672C>G ENSP00000479015.1:p.Arg224=
ENST00000486329.1:n.186C>G
NM_000118.3:c.1218C>G , LRG_589t1:c.1218C>G NP_000109.1:p.Arg406=
NM_001114753.2:c.1218C>G , LRG_589t2:c.1218C>G NP_001108225.1:p.Arg406=
NM_001278138.1:c.672C>G NP_001265067.1:p.Arg224=
NR_136302.1:n.1569-1241G>C
NM_001114753.3:c.1218C>G MANE Select NP_001108225.1:p.Arg406=
NM_001278138.2:c.672C>G NP_001265067.1:p.Arg224=