Canonical Allele Identifier: CA371658935

Gene: NBN

Linked Data

• gnomAD v4: 8-89971181-C-G
• MyVariant Identifiers: chr8:g.90983409C>G (hg19) ; chr8:g.89971181C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89971181C>G , CM000670.2:g.89971181C>G	GRCh38
NC_000008.10:g.90983409C>G , CM000670.1:g.90983409C>G	GRCh37
NC_000008.9:g.91052585C>G	NCBI36
NG_008860.1:g.18491G>C , LRG_158:g.18491G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1996G>C
ENST00000517337.2:c.448G>C	ENSP00000429971.2:p.Ala150Pro
ENST00000523444.2:c.448G>C	ENSP00000428252.2:p.Ala150Pro
ENST00000697292.1:c.694G>C	ENSP00000513229.1:p.Ala232Pro
ENST00000697293.1:c.694G>C	ENSP00000513230.1:p.Ala232Pro
ENST00000697294.1:c.*305G>C	ENSP00000513231.1:n.*305G>C
ENST00000697295.1:c.*3G>C	ENSP00000513232.1:n.*3G>C
ENST00000697296.1:c.*362G>C	ENSP00000513233.1:n.*362G>C
ENST00000697297.1:n.2479G>C
ENST00000697298.1:c.448G>C	ENSP00000513234.1:p.Ala150Pro
ENST00000697299.1:c.448G>C	ENSP00000513235.1:p.Ala150Pro
ENST00000697300.1:c.*298G>C	ENSP00000513236.1:n.*298G>C
ENST00000697301.1:c.*215G>C	ENSP00000513237.1:n.*215G>C
ENST00000697302.1:c.*215G>C	ENSP00000513238.1:n.*215G>C
ENST00000697303.1:c.*298G>C	ENSP00000513239.1:n.*298G>C
ENST00000697304.1:c.585-6674G>C	ENSP00000513240.1:n.585-6674G>C
ENST00000697306.1:c.480+9553G>C	ENSP00000513241.1:n.480+9553G>C
ENST00000697307.1:c.694G>C	ENSP00000513242.1:p.Ala232Pro
ENST00000697308.1:c.694G>C	ENSP00000513243.1:p.Ala232Pro
ENST00000697309.1:c.694G>C	ENSP00000513244.1:p.Ala232Pro
ENST00000697310.1:c.694G>C	ENSP00000513245.1:p.Ala232Pro
ENST00000697311.1:c.694G>C	ENSP00000513246.1:p.Ala232Pro
ENST00000697312.1:c.*92G>C	ENSP00000513247.1:n.*92G>C
ENST00000697313.1:n.2485G>C
ENST00000697314.1:n.2485G>C
ENST00000697315.1:c.694G>C	ENSP00000513248.1:p.Ala232Pro
ENST00000697316.1:n.815G>C
ENST00000697317.1:n.804G>C
ENST00000697318.1:n.806G>C
ENST00000265433.8:c.694G>C MANE Select	ENSP00000265433.4:p.Ala232Pro
ENST00000265433.7:c.694G>C	ENSP00000265433.3:p.Ala232Pro
ENST00000396252.6:c.*567G>C	ENSP00000379551.2:n.*567G>C
ENST00000409330.5:c.448G>C	ENSP00000386924.1:p.Ala150Pro
ENST00000517772.5:c.448G>C	ENSP00000428717.1:p.Ala150Pro
ENST00000519426.5:c.430G>C	ENSP00000430983.1:p.Ala144Pro
NM_001024688.2:c.448G>C	NP_001019859.1:p.Ala150Pro
NM_002485.4:c.694G>C , LRG_158t1:c.694G>C	NP_002476.2:p.Ala232Pro
XM_011517044.1:c.670G>C	XP_011515346.1:p.Ala224Pro
XM_011517045.1:c.448G>C	XP_011515347.1:p.Ala150Pro
XM_011517046.1:c.694G>C	XP_011515348.1:p.Ala232Pro
XR_928335.1:n.831G>C
XM_017013460.1:c.-186G>C	XP_016868949.1:n.-186G>C
XM_017013462.2:c.-186G>C	XP_016868951.1:n.-186G>C
XM_024447163.1:c.448G>C	XP_024302931.1:p.Ala150Pro
XM_024447164.1:c.448G>C	XP_024302932.1:p.Ala150Pro
XM_024447165.1:c.-186G>C	XP_024302933.1:n.-186G>C
NM_002485.5:c.694G>C MANE Select	NP_002476.2:p.Ala232Pro
NM_001024688.3:c.448G>C	NP_001019859.1:p.Ala150Pro