Canonical Allele Identifier: CA350626877

Gene: NHEJ1

Linked Data

• ClinVar Variation Id: 1466691
• ClinVar RCV Id: RCV001979683
• dbSNP Id: rs1481152382
• MyVariant Identifiers: chr2:g.220011461C>T (hg19) ; chr2:g.219146739C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219146739C>T , CM000664.2:g.219146739C>T	GRCh38
NC_000002.11:g.220011461C>T , CM000664.1:g.220011461C>T	GRCh37
NC_000002.10:g.219719705C>T	NCBI36
NG_007880.1:g.19127G>A , LRG_90:g.19127G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426304.6:c.530-1G>A	ENSP00000394896.2:n.530-1G>A
ENST00000457600.3:c.530-1G>A	ENSP00000407201.2:n.530-1G>A
ENST00000698174.1:c.530-1G>A	ENSP00000513594.1:n.530-1G>A
ENST00000698175.1:c.*277-1G>A	ENSP00000513595.1:n.*277-1G>A
ENST00000698176.1:n.602-1G>A
ENST00000698202.1:c.530-1G>A	ENSP00000513605.1:n.530-1G>A
ENST00000698203.1:c.530-1G>A	ENSP00000513606.1:n.530-1G>A
ENST00000356853.10:c.530-1G>A MANE Select	ENSP00000349313.5:n.530-1G>A
ENST00000318673.6:c.*1652-1G>A	ENSP00000320919.3:n.*1652-1G>A
ENST00000356853.9:c.530-1G>A	ENSP00000349313.5:n.530-1G>A
ENST00000409720.5:c.530-1G>A	ENSP00000387290.1:n.530-1G>A
ENST00000418099.5:c.530-1G>A	ENSP00000408966.1:n.530-1G>A
ENST00000426304.5:c.290-1G>A	ENSP00000394896.1:n.290-1G>A
ENST00000450447.1:c.*217-1G>A	ENSP00000408421.1:n.*217-1G>A
ENST00000457600.2:c.530-1G>A	ENSP00000407201.1:n.530-1G>A
ENST00000498327.5:n.2718-1G>A
NM_024782.2:c.530-1G>A , LRG_90t1:c.530-1G>A	NP_079058.1:n.530-1G>A
NM_001377498.1:c.530-1G>A	NP_001364427.1:n.530-1G>A
NM_001377499.1:c.530-1G>A	NP_001364428.1:n.530-1G>A
NM_024782.3:c.530-1G>A MANE Select	NP_079058.1:n.530-1G>A
NR_165304.1:n.626-1G>A