Canonical Allele Identifier: CA16617473
Gene: NHEJ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 424538
ClinVar RCV Id: RCV000479579
dbSNP Id: rs1064797028
MyVariant Identifiers: chr2:g.220022229A>C (hg19) chr2:g.219157507A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219157507A>C , CM000664.2:g.219157507A>C GRCh38
NC_000002.11:g.220022229A>C , CM000664.1:g.220022229A>C GRCh37
NC_000002.10:g.219730473A>C NCBI36
NG_007880.1:g.8359T>G , LRG_90:g.8359T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000426304.6:c.355T>G ENSP00000394896.2:p.Trp119Gly
ENST00000457600.3:c.355T>G ENSP00000407201.2:p.Trp119Gly
ENST00000698174.1:c.355T>G ENSP00000513594.1:p.Trp119Gly
ENST00000698175.1:c.*102T>G ENSP00000513595.1:n.*102T>G
ENST00000698176.1:n.427T>G
ENST00000698202.1:c.355T>G ENSP00000513605.1:p.Trp119Gly
ENST00000698203.1:c.355T>G ENSP00000513606.1:p.Trp119Gly
ENST00000356853.10:c.355T>G MANE Select ENSP00000349313.5:p.Trp119Gly
ENST00000318673.6:c.*1477T>G ENSP00000320919.3:n.*1477T>G
ENST00000356853.9:c.355T>G ENSP00000349313.5:p.Trp119Gly
ENST00000409720.5:c.355T>G ENSP00000387290.1:p.Trp119Gly
ENST00000418099.5:c.355T>G ENSP00000408966.1:p.Trp119Gly
ENST00000426304.5:c.115T>G ENSP00000394896.1:p.Trp39Gly
ENST00000450447.1:c.*42T>G ENSP00000408421.1:n.*42T>G
ENST00000457600.2:c.355T>G ENSP00000407201.1:p.Trp119Gly
ENST00000498327.5:n.2543T>G
NM_024782.2:c.355T>G , LRG_90t1:c.355T>G NP_079058.1:p.Trp119Gly
NM_001377498.1:c.355T>G NP_001364427.1:p.Trp119Gly
NM_001377499.1:c.355T>G NP_001364428.1:p.Trp119Gly
NM_024782.3:c.355T>G MANE Select NP_079058.1:p.Trp119Gly
NR_165304.1:n.451T>G
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