Canonical Allele Identifier: CA350626714

Gene: NHEJ1

Linked Data

• ClinVar Variation Id: 1501858
• ClinVar RCV Id: RCV002010830
• dbSNP Id: rs2106361542
• MyVariant Identifiers: chr2:g.220011413A>G (hg19) ; chr2:g.219146691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219146691A>G , CM000664.2:g.219146691A>G	GRCh38
NC_000002.11:g.220011413A>G , CM000664.1:g.220011413A>G	GRCh37
NC_000002.10:g.219719657A>G	NCBI36
NG_007880.1:g.19175T>C , LRG_90:g.19175T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.577T>C	ENSP00000394896.2:p.Phe193Leu
ENST00000457600.3:c.577T>C	ENSP00000407201.2:p.Phe193Leu
ENST00000698174.1:c.577T>C	ENSP00000513594.1:p.Phe193Leu
ENST00000698175.1:c.*324T>C	ENSP00000513595.1:n.*324T>C
ENST00000698176.1:n.649T>C
ENST00000698202.1:c.577T>C	ENSP00000513605.1:p.Phe193Leu
ENST00000698203.1:c.577T>C	ENSP00000513606.1:p.Phe193Leu
ENST00000356853.10:c.577T>C MANE Select	ENSP00000349313.5:p.Phe193Leu
ENST00000318673.6:c.*1699T>C	ENSP00000320919.3:n.*1699T>C
ENST00000356853.9:c.577T>C	ENSP00000349313.5:p.Phe193Leu
ENST00000409720.5:c.577T>C	ENSP00000387290.1:p.Phe193Leu
ENST00000418099.5:c.577T>C	ENSP00000408966.1:p.Phe193Leu
ENST00000426304.5:c.337T>C	ENSP00000394896.1:p.Phe113Leu
ENST00000457600.2:c.577T>C	ENSP00000407201.1:p.Phe193Leu
ENST00000498327.5:n.2765T>C
NM_024782.2:c.577T>C , LRG_90t1:c.577T>C	NP_079058.1:p.Phe193Leu
NM_001377498.1:c.577T>C	NP_001364427.1:p.Phe193Leu
NM_001377499.1:c.577T>C	NP_001364428.1:p.Phe193Leu
NM_024782.3:c.577T>C MANE Select	NP_079058.1:p.Phe193Leu
NR_165304.1:n.673T>C