Canonical Allele Identifier: CA369699458
Gene: NOBOX HGNC NCBI

Linked Data

dbSNP Id: rs2053926601
gnomAD v4: 7-144400138-A-C
MyVariant Identifiers: chr7:g.144097231A>C (hg19) chr7:g.144400138A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.144400138A>C , CM000669.2:g.144400138A>C GRCh38
NC_000007.13:g.144097231A>C , CM000669.1:g.144097231A>C GRCh37
NC_000007.12:g.143728164A>C NCBI36
NG_028979.1:g.15090T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000643164.1:c.144+68T>G ENSP00000495343.1:n.144+68T>G
ENST00000645489.1:c.696+68T>G ENSP00000496732.1:n.696+68T>G
ENST00000467773.1:c.1019T>G MANE Select ENSP00000419457.1:p.Leu340Trp
ENST00000483238.5:c.951+68T>G ENSP00000419565.1:n.951+68T>G
NM_001080413.3:c.1019T>G MANE Select NP_001073882.3:p.Leu340Trp
XM_011515791.1:c.696+68T>G XP_011514093.1:n.696+68T>G
XM_017011742.2:c.951+68T>G XP_016867231.1:n.951+68T>G
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