Canonical Allele Identifier: CA371674841

Gene: NBN

Linked Data

• ClinVar Variation Id: 943143
• ClinVar RCV Id: RCV001213273
• dbSNP Id: rs1809726528
• MyVariant Identifiers: chr8:g.90949302A>G (hg19) ; chr8:g.89937074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937074A>G , CM000670.2:g.89937074A>G	GRCh38
NC_000008.10:g.90949302A>G , CM000670.1:g.90949302A>G	GRCh37
NC_000008.9:g.91018478A>G	NCBI36
NG_008860.1:g.52598T>C , LRG_158:g.52598T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3606T>C
ENST00000494804.2:n.3488T>C
ENST00000517337.2:c.1940T>C	ENSP00000429971.2:p.Val647Ala
ENST00000523444.2:c.1940T>C	ENSP00000428252.2:p.Val647Ala
ENST00000697292.1:c.2186T>C	ENSP00000513229.1:p.Val729Ala
ENST00000697293.1:c.2237T>C	ENSP00000513230.1:p.Val746Ala
ENST00000697294.1:c.*1797T>C	ENSP00000513231.1:n.*1797T>C
ENST00000697295.1:c.*1495T>C	ENSP00000513232.1:n.*1495T>C
ENST00000697296.1:c.*1854T>C	ENSP00000513233.1:n.*1854T>C
ENST00000697297.1:n.3971T>C
ENST00000697298.1:c.1940T>C	ENSP00000513234.1:p.Val647Ala
ENST00000697299.1:c.1940T>C	ENSP00000513235.1:p.Val647Ala
ENST00000697300.1:c.*1790T>C	ENSP00000513236.1:n.*1790T>C
ENST00000697301.1:c.*1707T>C	ENSP00000513237.1:n.*1707T>C
ENST00000697302.1:c.*1707T>C	ENSP00000513238.1:n.*1707T>C
ENST00000697303.1:c.*1790T>C	ENSP00000513239.1:n.*1790T>C
ENST00000697304.1:c.1874T>C	ENSP00000513240.1:p.Val625Ala
ENST00000697305.1:n.2453T>C
ENST00000697306.1:c.*2737T>C	ENSP00000513241.1:n.*2737T>C
ENST00000697307.1:c.1961T>C	ENSP00000513242.1:p.Val654Ala
ENST00000697308.1:c.2117T>C	ENSP00000513243.1:p.Val706Ala
ENST00000697309.1:c.2185-1462T>C	ENSP00000513244.1:n.2185-1462T>C
ENST00000697310.1:c.2186T>C	ENSP00000513245.1:p.Val729Ala
ENST00000697311.1:c.*451T>C	ENSP00000513246.1:n.*451T>C
ENST00000697312.1:c.*1639T>C	ENSP00000513247.1:n.*1639T>C
ENST00000697313.1:n.2688-1462T>C
ENST00000697314.1:n.3637-1462T>C
ENST00000697315.1:c.*90T>C	ENSP00000513248.1:n.*90T>C
ENST00000697316.1:n.2307T>C
ENST00000265433.8:c.2186T>C MANE Select	ENSP00000265433.4:p.Val729Ala
ENST00000265433.7:c.2186T>C	ENSP00000265433.3:p.Val729Ala
ENST00000396252.6:c.*2059T>C	ENSP00000379551.2:n.*2059T>C
ENST00000409330.5:c.1940T>C	ENSP00000386924.1:p.Val647Ala
ENST00000474821.1:n.274T>C
ENST00000613033.1:c.296T>C	ENSP00000484487.1:p.Val99Ala
NM_001024688.2:c.1940T>C	NP_001019859.1:p.Val647Ala
NM_002485.4:c.2186T>C , LRG_158t1:c.2186T>C	NP_002476.2:p.Val729Ala
XM_011517044.1:c.2162T>C	XP_011515346.1:p.Val721Ala
XM_011517045.1:c.1940T>C	XP_011515347.1:p.Val647Ala
XM_017013460.1:c.1307T>C	XP_016868949.1:p.Val436Ala
XM_017013462.2:c.1307T>C	XP_016868951.1:p.Val436Ala
XM_024447163.1:c.1940T>C	XP_024302931.1:p.Val647Ala
XM_024447164.1:c.1940T>C	XP_024302932.1:p.Val647Ala
XM_024447165.1:c.1307T>C	XP_024302933.1:p.Val436Ala
NM_002485.5:c.2186T>C MANE Select	NP_002476.2:p.Val729Ala
NM_001024688.3:c.1940T>C	NP_001019859.1:p.Val647Ala