Canonical Allele Identifier: CA16041210
Gene: NBN HGNC NCBI

Linked Data

ClinVar Variation Id: 371225
ClinVar RCV Id: RCV000411476
dbSNP Id: rs1057517104

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.89971172C>T , CM000670.2:g.89971172C>T GRCh38
NC_000008.10:g.90983400C>T , CM000670.1:g.90983400C>T GRCh37
NC_000008.9:g.91052576C>T NCBI36
NG_008860.1:g.18500G>A , LRG_158:g.18500G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000265433.8:c.702+1G>A MANE Select ENSP00000265433.4:p.=
ENST00000265433.7:c.702+1G>A ENSP00000265433.3:p.=
ENST00000396252.6:c.*575+1G>A ENSP00000379551.2:p.=
ENST00000409330.5:c.456+1G>A ENSP00000386924.1:p.=
ENST00000517772.5:c.456+1G>A ENSP00000428717.1:p.=
ENST00000519426.5:c.438+1G>A ENSP00000430983.1:p.=
NM_001024688.2:c.456+1G>A NP_001019859.1:p.=
NM_002485.4:c.702+1G>A , LRG_158t1:c.702+1G>A NP_002476.2:p.=
XM_011517044.1:c.678+1G>A XP_011515346.1:p.=
XM_011517045.1:c.456+1G>A XP_011515347.1:p.=
XM_011517046.1:c.702+1G>A XP_011515348.1:p.=
XR_928335.1:n.839+1G>A
XM_017013460.1:c.-178+1G>A XP_016868949.1:p.=
XM_017013462.2:c.-178+1G>A XP_016868951.1:p.=
XM_024447163.1:c.456+1G>A XP_024302931.1:p.=
XM_024447164.1:c.456+1G>A XP_024302932.1:p.=
XM_024447165.1:c.-178+1G>A XP_024302933.1:p.=
NM_002485.5:c.702+1G>A MANE Select NP_002476.2:p.=
NM_001024688.3:c.456+1G>A NP_001019859.1:p.=