Canonical Allele Identifier: CA350626817

Gene: NHEJ1

Linked Data

• ClinVar Variation Id: 2477699
• ClinVar RCV Id: RCV003204035
• gnomAD v4: 2-219146720-G-A
• MyVariant Identifiers: chr2:g.220011442G>A (hg19) ; chr2:g.219146720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219146720G>A , CM000664.2:g.219146720G>A	GRCh38
NC_000002.11:g.220011442G>A , CM000664.1:g.220011442G>A	GRCh37
NC_000002.10:g.219719686G>A	NCBI36
NG_007880.1:g.19146C>T , LRG_90:g.19146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.548C>T	ENSP00000394896.2:p.Pro183Leu
ENST00000457600.3:c.548C>T	ENSP00000407201.2:p.Pro183Leu
ENST00000698174.1:c.548C>T	ENSP00000513594.1:p.Pro183Leu
ENST00000698175.1:c.*295C>T	ENSP00000513595.1:n.*295C>T
ENST00000698176.1:n.620C>T
ENST00000698202.1:c.548C>T	ENSP00000513605.1:p.Pro183Leu
ENST00000698203.1:c.548C>T	ENSP00000513606.1:p.Pro183Leu
ENST00000356853.10:c.548C>T MANE Select	ENSP00000349313.5:p.Pro183Leu
ENST00000318673.6:c.*1670C>T	ENSP00000320919.3:n.*1670C>T
ENST00000356853.9:c.548C>T	ENSP00000349313.5:p.Pro183Leu
ENST00000409720.5:c.548C>T	ENSP00000387290.1:p.Pro183Leu
ENST00000418099.5:c.548C>T	ENSP00000408966.1:p.Pro183Leu
ENST00000426304.5:c.308C>T	ENSP00000394896.1:p.Pro103Leu
ENST00000450447.1:c.*235C>T	ENSP00000408421.1:n.*235C>T
ENST00000457600.2:c.548C>T	ENSP00000407201.1:p.Pro183Leu
ENST00000498327.5:n.2736C>T
NM_024782.2:c.548C>T , LRG_90t1:c.548C>T	NP_079058.1:p.Pro183Leu
NM_001377498.1:c.548C>T	NP_001364427.1:p.Pro183Leu
NM_001377499.1:c.548C>T	NP_001364428.1:p.Pro183Leu
NM_024782.3:c.548C>T MANE Select	NP_079058.1:p.Pro183Leu
NR_165304.1:n.644C>T