Canonical Allele Identifier: CA4802992

Gene: NBN

Linked Data

• ClinVar Variation Id: 231708
• ClinVar RCV Id: RCV000213516 ; RCV000764789 ; RCV000817138
• dbSNP Id: rs777916019
• ExAC: 8:90993081 C / G
• gnomAD v2: 8-90993081-C-G
• gnomAD v3: 8-89980853-C-G
• gnomAD v4: 8-89980853-C-G
• MyVariant Identifiers: chr8:g.90993081C>G (hg19) ; chr8:g.89980853C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89980853C>G , CM000670.2:g.89980853C>G	GRCh38
NC_000008.10:g.90993081C>G , CM000670.1:g.90993081C>G	GRCh37
NC_000008.9:g.91062257C>G	NCBI36
NG_008860.1:g.8819G>C , LRG_158:g.8819G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1663G>C
ENST00000517337.2:c.115G>C	ENSP00000429971.2:p.Asp39His
ENST00000523444.2:c.115G>C	ENSP00000428252.2:p.Asp39His
ENST00000697292.1:c.361G>C	ENSP00000513229.1:p.Asp121His
ENST00000697293.1:c.361G>C	ENSP00000513230.1:p.Asp121His
ENST00000697294.1:c.321-1G>C	ENSP00000513231.1:n.321-1G>C
ENST00000697295.1:c.37+3672G>C	ENSP00000513232.1:n.37+3672G>C
ENST00000697296.1:c.*29G>C	ENSP00000513233.1:n.*29G>C
ENST00000697297.1:n.2146G>C
ENST00000697298.1:c.115G>C	ENSP00000513234.1:p.Asp39His
ENST00000697299.1:c.115G>C	ENSP00000513235.1:p.Asp39His
ENST00000697300.1:c.115G>C	ENSP00000513236.1:p.Asp39His
ENST00000697301.1:c.75-1G>C	ENSP00000513237.1:n.75-1G>C
ENST00000697302.1:c.321-1G>C	ENSP00000513238.1:n.321-1G>C
ENST00000697303.1:c.361G>C	ENSP00000513239.1:p.Asp121His
ENST00000697304.1:c.361G>C	ENSP00000513240.1:p.Asp121His
ENST00000697306.1:c.361G>C	ENSP00000513241.1:p.Asp121His
ENST00000697307.1:c.361G>C	ENSP00000513242.1:p.Asp121His
ENST00000697308.1:c.361G>C	ENSP00000513243.1:p.Asp121His
ENST00000697309.1:c.361G>C	ENSP00000513244.1:p.Asp121His
ENST00000697310.1:c.361G>C	ENSP00000513245.1:p.Asp121His
ENST00000697311.1:c.361G>C	ENSP00000513246.1:p.Asp121His
ENST00000697312.1:c.361G>C	ENSP00000513247.1:p.Asp121His
ENST00000697313.1:n.2152G>C
ENST00000697314.1:n.2152G>C
ENST00000697315.1:c.361G>C	ENSP00000513248.1:p.Asp121His
ENST00000697316.1:n.482G>C
ENST00000697317.1:n.471G>C
ENST00000697318.1:n.473G>C
ENST00000265433.8:c.361G>C MANE Select	ENSP00000265433.4:p.Asp121His
ENST00000265433.7:c.361G>C	ENSP00000265433.3:p.Asp121His
ENST00000396252.6:c.*234G>C	ENSP00000379551.2:n.*234G>C
ENST00000409330.5:c.115G>C	ENSP00000386924.1:p.Asp39His
ENST00000517337.1:c.115G>C	ENSP00000429971.1:p.Asp39His
ENST00000517772.5:c.115G>C	ENSP00000428717.1:p.Asp39His
ENST00000519426.5:c.320+522G>C	ENSP00000430983.1:n.320+522G>C
ENST00000523444.1:c.*194-1G>C	ENSP00000428252.1:n.*194-1G>C
NM_001024688.2:c.115G>C	NP_001019859.1:p.Asp39His
NM_002485.4:c.361G>C , LRG_158t1:c.361G>C	NP_002476.2:p.Asp121His
XM_011517044.1:c.337G>C	XP_011515346.1:p.Asp113His
XM_011517045.1:c.115G>C	XP_011515347.1:p.Asp39His
XM_011517046.1:c.361G>C	XP_011515348.1:p.Asp121His
XR_928335.1:n.498G>C
XM_017013460.1:c.-609G>C	XP_016868949.1:n.-609G>C
XM_017013462.2:c.-415G>C	XP_016868951.1:n.-415G>C
XM_024447163.1:c.115G>C	XP_024302931.1:p.Asp39His
XM_024447164.1:c.115G>C	XP_024302932.1:p.Asp39His
XM_024447165.1:c.-609G>C	XP_024302933.1:n.-609G>C
NM_002485.5:c.361G>C MANE Select	NP_002476.2:p.Asp121His
NM_001024688.3:c.115G>C	NP_001019859.1:p.Asp39His