Canonical Allele Identifier: CA5253152
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127829687G>A
GRCh37 chr9:g.130591966G>A
gnomAD v2:
9:130591966 G / A
gnomAD v3:
9:127829687 G / A
gnomAD v4:
chr9-127829687-G-A
Joint Max Group AF 0.0000804 (NFE)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00007949 (NFE)
ClinVar RCV:
RCV000633148
RCV002233948
ClinVar Variation:
528068
dbSNP:
121918402
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127829687G>A , CM000671.2:g.127829687G>A GRCh38
NC_000009.11:g.130591966G>A , CM000671.1:g.130591966G>A GRCh37
NC_000009.10:g.129631787G>A NCBI36
NG_009551.1:g.30082C>T , LRG_589:g.30082C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-187C>T ENSP00000479015.1:n.-187C>T
ENST00000373203.9:c.360C>T MANE Select ENSP00000362299.4:p.Tyr120=
ENST00000344849.4:c.360C>T ENSP00000341917.3:p.Tyr120=
ENST00000373203.8:c.360C>T ENSP00000362299.4:p.Tyr120=
ENST00000462196.1:n.118C>T
ENST00000480266.5:c.-187C>T ENSP00000479015.1:n.-187C>T
NM_000118.3:c.360C>T , LRG_589t1:c.360C>T NP_000109.1:p.Tyr120=
NM_001114753.2:c.360C>T , LRG_589t2:c.360C>T NP_001108225.1:p.Tyr120=
NM_001278138.1:c.-187C>T NP_001265067.1:n.-187C>T
XR_001746952.2:n.83-2711G>A
NM_001114753.3:c.360C>T MANE Select NP_001108225.1:p.Tyr120=
NM_001278138.2:c.-187C>T NP_001265067.1:n.-187C>T
Search 100 bp 5'
Search 100 bp 3'