Canonical Allele Identifier: CA5252787
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127818737C>T
GRCh37 chr9:g.130581016C>T
gnomAD v2:
9:130581016 C / T
gnomAD v3:
9:127818737 C / T
gnomAD v4:
chr9-127818737-C-T
Joint Max Group AF 0.00078224 (AMR)
Genomes Max Group AF 0.0007075 (AMR)
Exomes Max Group AF 0.00071409 (AMR)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818737C>T , CM000671.2:g.127818737C>T GRCh38
NC_000009.11:g.130581016C>T , CM000671.1:g.130581016C>T GRCh37
NC_000009.10:g.129620837C>T NCBI36
NG_009551.1:g.41032G>A , LRG_589:g.41032G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.861G>A ENSP00000479015.1:p.Pro287=
ENST00000373203.9:c.1407G>A MANE Select ENSP00000362299.4:p.Pro469=
ENST00000344849.4:c.1407G>A ENSP00000341917.3:p.Pro469=
ENST00000373203.8:c.1407G>A ENSP00000362299.4:p.Pro469=
ENST00000480266.5:c.861G>A ENSP00000479015.1:p.Pro287=
NM_000118.3:c.1407G>A , LRG_589t1:c.1407G>A NP_000109.1:p.Pro469=
NM_001114753.2:c.1407G>A , LRG_589t2:c.1407G>A NP_001108225.1:p.Pro469=
NM_001278138.1:c.861G>A NP_001265067.1:p.Pro287=
NR_136302.1:n.1568+26C>T
NM_001114753.3:c.1407G>A MANE Select NP_001108225.1:p.Pro469=
NM_001278138.2:c.861G>A NP_001265067.1:p.Pro287=
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