Canonical Allele Identifier: CA371674752

Gene: NBN

Linked Data

• ClinVar Variation Id: 1414806
• ClinVar RCV Id: RCV001945390
• dbSNP Id: rs894189734
• MyVariant Identifiers: chr8:g.90949261G>A (hg19) ; chr8:g.89937033G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937033G>A , CM000670.2:g.89937033G>A	GRCh38
NC_000008.10:g.90949261G>A , CM000670.1:g.90949261G>A	GRCh37
NC_000008.9:g.91018437G>A	NCBI36
NG_008860.1:g.52639C>T , LRG_158:g.52639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3647C>T
ENST00000494804.2:n.3529C>T
ENST00000517337.2:c.1981C>T	ENSP00000429971.2:p.Leu661Phe
ENST00000523444.2:c.1981C>T	ENSP00000428252.2:p.Leu661Phe
ENST00000697292.1:c.2227C>T	ENSP00000513229.1:p.Leu743Phe
ENST00000697293.1:c.2278C>T	ENSP00000513230.1:p.Leu760Phe
ENST00000697294.1:c.*1838C>T	ENSP00000513231.1:n.*1838C>T
ENST00000697295.1:c.*1536C>T	ENSP00000513232.1:n.*1536C>T
ENST00000697296.1:c.*1895C>T	ENSP00000513233.1:n.*1895C>T
ENST00000697297.1:n.4012C>T
ENST00000697298.1:c.1981C>T	ENSP00000513234.1:p.Leu661Phe
ENST00000697299.1:c.1981C>T	ENSP00000513235.1:p.Leu661Phe
ENST00000697300.1:c.*1831C>T	ENSP00000513236.1:n.*1831C>T
ENST00000697301.1:c.*1748C>T	ENSP00000513237.1:n.*1748C>T
ENST00000697302.1:c.*1748C>T	ENSP00000513238.1:n.*1748C>T
ENST00000697303.1:c.*1831C>T	ENSP00000513239.1:n.*1831C>T
ENST00000697304.1:c.1915C>T	ENSP00000513240.1:p.Leu639Phe
ENST00000697305.1:n.2494C>T
ENST00000697306.1:c.*2778C>T	ENSP00000513241.1:n.*2778C>T
ENST00000697307.1:c.2002C>T	ENSP00000513242.1:p.Leu668Phe
ENST00000697308.1:c.2158C>T	ENSP00000513243.1:p.Leu720Phe
ENST00000697309.1:c.2185-1421C>T	ENSP00000513244.1:n.2185-1421C>T
ENST00000697310.1:c.2227C>T	ENSP00000513245.1:p.Leu743Phe
ENST00000697311.1:c.*492C>T	ENSP00000513246.1:n.*492C>T
ENST00000697312.1:c.*1680C>T	ENSP00000513247.1:n.*1680C>T
ENST00000697313.1:n.2688-1421C>T
ENST00000697314.1:n.3637-1421C>T
ENST00000697315.1:c.*131C>T	ENSP00000513248.1:n.*131C>T
ENST00000697316.1:n.2348C>T
ENST00000265433.8:c.2227C>T MANE Select	ENSP00000265433.4:p.Leu743Phe
ENST00000265433.7:c.2227C>T	ENSP00000265433.3:p.Leu743Phe
ENST00000396252.6:c.*2100C>T	ENSP00000379551.2:n.*2100C>T
ENST00000409330.5:c.1981C>T	ENSP00000386924.1:p.Leu661Phe
ENST00000474821.1:n.315C>T
ENST00000613033.1:c.337C>T	ENSP00000484487.1:p.Leu113Phe
NM_001024688.2:c.1981C>T	NP_001019859.1:p.Leu661Phe
NM_002485.4:c.2227C>T , LRG_158t1:c.2227C>T	NP_002476.2:p.Leu743Phe
XM_011517044.1:c.2203C>T	XP_011515346.1:p.Leu735Phe
XM_011517045.1:c.1981C>T	XP_011515347.1:p.Leu661Phe
XM_017013460.1:c.1348C>T	XP_016868949.1:p.Leu450Phe
XM_017013462.2:c.1348C>T	XP_016868951.1:p.Leu450Phe
XM_024447163.1:c.1981C>T	XP_024302931.1:p.Leu661Phe
XM_024447164.1:c.1981C>T	XP_024302932.1:p.Leu661Phe
XM_024447165.1:c.1348C>T	XP_024302933.1:p.Leu450Phe
NM_002485.5:c.2227C>T MANE Select	NP_002476.2:p.Leu743Phe
NM_001024688.3:c.1981C>T	NP_001019859.1:p.Leu661Phe