Canonical Allele Identifier: CA5253205
Gene: ENG HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.127843072G>A
GRCh37 chr9:g.130605351G>A
gnomAD v2:
9:130605351 G / A
gnomAD v3:
9:127843072 G / A
gnomAD v4:
chr9-127843072-G-A
Joint Max Group AF 0.00110957 (NFE)
Genomes Max Group AF 0.00091506 (NFE)
Exomes Max Group AF 0.0011109 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127843072G>A , CM000671.2:g.127843072G>A GRCh38
NC_000009.11:g.130605351G>A , CM000671.1:g.130605351G>A GRCh37
NC_000009.10:g.129645172G>A NCBI36
NG_009551.1:g.16697C>T , LRG_589:g.16697C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-328+22C>T ENSP00000479015.1:n.-328+22C>T
ENST00000373203.9:c.219+22C>T MANE Select ENSP00000362299.4:n.219+22C>T
ENST00000344849.4:c.219+22C>T ENSP00000341917.3:n.219+22C>T
ENST00000373203.8:c.219+22C>T ENSP00000362299.4:n.219+22C>T
ENST00000480266.5:c.-328+22C>T ENSP00000479015.1:n.-328+22C>T
NM_000118.3:c.219+22C>T , LRG_589t1:c.219+22C>T NP_000109.1:n.219+22C>T
NM_001114753.2:c.219+22C>T , LRG_589t2:c.219+22C>T NP_001108225.1:n.219+22C>T
NM_001278138.1:c.-328+22C>T NP_001265067.1:n.-328+22C>T
NM_001114753.3:c.219+22C>T MANE Select NP_001108225.1:n.219+22C>T
NM_001278138.2:c.-328+22C>T NP_001265067.1:n.-328+22C>T
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