Canonical Allele Identifier: CA5252793
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127818755G>A
GRCh37 chr9:g.130581034G>A
gnomAD v2:
9:130581034 G / A
gnomAD v3:
9:127818755 G / A
gnomAD v4:
chr9-127818755-G-A
Joint Max Group AF 0.00006641 (NFE)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00006696 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818755G>A , CM000671.2:g.127818755G>A GRCh38
NC_000009.11:g.130581034G>A , CM000671.1:g.130581034G>A GRCh37
NC_000009.10:g.129620855G>A NCBI36
NG_009551.1:g.41014C>T , LRG_589:g.41014C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.843C>T ENSP00000479015.1:p.Ala281=
ENST00000373203.9:c.1389C>T MANE Select ENSP00000362299.4:p.Ala463=
ENST00000344849.4:c.1389C>T ENSP00000341917.3:p.Ala463=
ENST00000373203.8:c.1389C>T ENSP00000362299.4:p.Ala463=
ENST00000480266.5:c.843C>T ENSP00000479015.1:p.Ala281=
NM_000118.3:c.1389C>T , LRG_589t1:c.1389C>T NP_000109.1:p.Ala463=
NM_001114753.2:c.1389C>T , LRG_589t2:c.1389C>T NP_001108225.1:p.Ala463=
NM_001278138.1:c.843C>T NP_001265067.1:p.Ala281=
NR_136302.1:n.1568+44G>A
NM_001114753.3:c.1389C>T MANE Select NP_001108225.1:p.Ala463=
NM_001278138.2:c.843C>T NP_001265067.1:p.Ala281=
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