Canonical Allele Identifier: CA295471
Gene: ENG HGNC NCBI
COSMIC:
COSM3763659
COSM4783682 (not active)
MyVariant.info:
GRCh38 chr9:g.127843106C>T
GRCh37 chr9:g.130605385C>T
gnomAD v2:
9:130605385 C / T
gnomAD v3:
9:127843106 C / T
gnomAD v4:
chr9-127843106-C-T
Joint Max Group AF 0.24296094 (AFR)
Genomes Max Group AF 0.23464106 (AFR)
Exomes Max Group AF 0.2505405 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127843106C>T , CM000671.2:g.127843106C>T GRCh38
NC_000009.11:g.130605385C>T , CM000671.1:g.130605385C>T GRCh37
NC_000009.10:g.129645206C>T NCBI36
NG_009551.1:g.16663G>A , LRG_589:g.16663G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-340G>A ENSP00000479015.1:n.-340G>A
ENST00000373203.9:c.207G>A MANE Select ENSP00000362299.4:p.Leu69=
ENST00000344849.4:c.207G>A ENSP00000341917.3:p.Leu69=
ENST00000373203.8:c.207G>A ENSP00000362299.4:p.Leu69=
ENST00000480266.5:c.-340G>A ENSP00000479015.1:n.-340G>A
NM_000118.3:c.207G>A , LRG_589t1:c.207G>A NP_000109.1:p.Leu69=
NM_001114753.2:c.207G>A , LRG_589t2:c.207G>A NP_001108225.1:p.Leu69=
NM_001278138.1:c.-340G>A NP_001265067.1:n.-340G>A
NM_001114753.3:c.207G>A MANE Select NP_001108225.1:p.Leu69=
NM_001278138.2:c.-340G>A NP_001265067.1:n.-340G>A
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