Canonical Allele Identifier: CA371662082

Gene: NBN

Linked Data

• ClinVar Variation Id: 2087219
• ClinVar RCV Id: RCV003009452
• MyVariant Identifiers: chr8:g.90993080T>G (hg19) ; chr8:g.89980852T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89980852T>G , CM000670.2:g.89980852T>G	GRCh38
NC_000008.10:g.90993080T>G , CM000670.1:g.90993080T>G	GRCh37
NC_000008.9:g.91062256T>G	NCBI36
NG_008860.1:g.8820A>C , LRG_158:g.8820A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.1664A>C
ENST00000517337.2:c.116A>C	ENSP00000429971.2:p.Asp39Ala
ENST00000523444.2:c.116A>C	ENSP00000428252.2:p.Asp39Ala
ENST00000697292.1:c.362A>C	ENSP00000513229.1:p.Asp121Ala
ENST00000697293.1:c.362A>C	ENSP00000513230.1:p.Asp121Ala
ENST00000697294.1:c.321A>C	ENSP00000513231.1:p.Arg107Ser
ENST00000697295.1:c.37+3673A>C	ENSP00000513232.1:n.37+3673A>C
ENST00000697296.1:c.*30A>C	ENSP00000513233.1:n.*30A>C
ENST00000697297.1:n.2147A>C
ENST00000697298.1:c.116A>C	ENSP00000513234.1:p.Asp39Ala
ENST00000697299.1:c.116A>C	ENSP00000513235.1:p.Asp39Ala
ENST00000697300.1:c.116A>C	ENSP00000513236.1:p.Asp39Ala
ENST00000697301.1:c.75A>C	ENSP00000513237.1:p.Arg25Ser
ENST00000697302.1:c.321A>C	ENSP00000513238.1:p.Arg107Ser
ENST00000697303.1:c.362A>C	ENSP00000513239.1:p.Asp121Ala
ENST00000697304.1:c.362A>C	ENSP00000513240.1:p.Asp121Ala
ENST00000697306.1:c.362A>C	ENSP00000513241.1:p.Asp121Ala
ENST00000697307.1:c.362A>C	ENSP00000513242.1:p.Asp121Ala
ENST00000697308.1:c.362A>C	ENSP00000513243.1:p.Asp121Ala
ENST00000697309.1:c.362A>C	ENSP00000513244.1:p.Asp121Ala
ENST00000697310.1:c.362A>C	ENSP00000513245.1:p.Asp121Ala
ENST00000697311.1:c.362A>C	ENSP00000513246.1:p.Asp121Ala
ENST00000697312.1:c.362A>C	ENSP00000513247.1:p.Asp121Ala
ENST00000697313.1:n.2153A>C
ENST00000697314.1:n.2153A>C
ENST00000697315.1:c.362A>C	ENSP00000513248.1:p.Asp121Ala
ENST00000697316.1:n.483A>C
ENST00000697317.1:n.472A>C
ENST00000697318.1:n.474A>C
ENST00000265433.8:c.362A>C MANE Select	ENSP00000265433.4:p.Asp121Ala
ENST00000265433.7:c.362A>C	ENSP00000265433.3:p.Asp121Ala
ENST00000396252.6:c.*235A>C	ENSP00000379551.2:n.*235A>C
ENST00000409330.5:c.116A>C	ENSP00000386924.1:p.Asp39Ala
ENST00000517337.1:c.116A>C	ENSP00000429971.1:p.Asp39Ala
ENST00000517772.5:c.116A>C	ENSP00000428717.1:p.Asp39Ala
ENST00000519426.5:c.320+523A>C	ENSP00000430983.1:n.320+523A>C
ENST00000523444.1:c.*194A>C	ENSP00000428252.1:n.*194A>C
NM_001024688.2:c.116A>C	NP_001019859.1:p.Asp39Ala
NM_002485.4:c.362A>C , LRG_158t1:c.362A>C	NP_002476.2:p.Asp121Ala
XM_011517044.1:c.338A>C	XP_011515346.1:p.Asp113Ala
XM_011517045.1:c.116A>C	XP_011515347.1:p.Asp39Ala
XM_011517046.1:c.362A>C	XP_011515348.1:p.Asp121Ala
XR_928335.1:n.499A>C
XM_017013460.1:c.-608A>C	XP_016868949.1:n.-608A>C
XM_017013462.2:c.-414A>C	XP_016868951.1:n.-414A>C
XM_024447163.1:c.116A>C	XP_024302931.1:p.Asp39Ala
XM_024447164.1:c.116A>C	XP_024302932.1:p.Asp39Ala
XM_024447165.1:c.-608A>C	XP_024302933.1:n.-608A>C
NM_002485.5:c.362A>C MANE Select	NP_002476.2:p.Asp121Ala
NM_001024688.3:c.116A>C	NP_001019859.1:p.Asp39Ala