Canonical Allele Identifier: CA211422
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127825744C>T
GRCh37 chr9:g.130588023C>T
Revel Score:
ENST00000373203 (MANE Select) 0.259
ENST00000344849 0.259
ENST00000545345 0.259
ENST00000546301 0.259
gnomAD v2:
9:130588023 C / T
gnomAD v3:
9:127825744 C / T
gnomAD v4:
chr9-127825744-C-T
Joint Max Group AF 0.00086816 (AFR)
Genomes Max Group AF 0.00083268 (AFR)
Exomes Max Group AF 0.00074983 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825744C>T , CM000671.2:g.127825744C>T GRCh38
NC_000009.11:g.130588023C>T , CM000671.1:g.130588023C>T GRCh37
NC_000009.10:g.129627844C>T NCBI36
NG_009551.1:g.34025G>A , LRG_589:g.34025G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.94G>A ENSP00000479015.1:p.Gly32Ser
ENST00000373203.9:c.640G>A MANE Select ENSP00000362299.4:p.Gly214Ser
ENST00000344849.4:c.640G>A ENSP00000341917.3:p.Gly214Ser
ENST00000373203.8:c.640G>A ENSP00000362299.4:p.Gly214Ser
ENST00000480266.5:c.94G>A ENSP00000479015.1:p.Gly32Ser
NM_000118.3:c.640G>A , LRG_589t1:c.640G>A NP_000109.1:p.Gly214Ser
NM_001114753.2:c.640G>A , LRG_589t2:c.640G>A NP_001108225.1:p.Gly214Ser
NM_001278138.1:c.94G>A NP_001265067.1:p.Gly32Ser
XR_001746952.2:n.82+286C>T
NM_001114753.3:c.640G>A MANE Select NP_001108225.1:p.Gly214Ser
NM_001278138.2:c.94G>A NP_001265067.1:p.Gly32Ser
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