Canonical Allele Identifier: CA16618707

Gene: NBN

Linked Data

• ClinVar Variation Id: 422916
• ClinVar RCV Id: RCV000482441 ; RCV001302493
• dbSNP Id: rs1064796090
• MyVariant Identifiers: chr8:g.90990502A>G (hg19) ; chr8:g.89978274A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89978274A>G , CM000670.2:g.89978274A>G	GRCh38
NC_000008.10:g.90990502A>G , CM000670.1:g.90990502A>G	GRCh37
NC_000008.9:g.91059678A>G	NCBI36
NG_008860.1:g.11398T>C , LRG_158:g.11398T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.1832T>C
ENST00000517337.2:c.284T>C	ENSP00000429971.2:p.Phe95Ser
ENST00000523444.2:c.284T>C	ENSP00000428252.2:p.Phe95Ser
ENST00000697292.1:c.530T>C	ENSP00000513229.1:p.Phe177Ser
ENST00000697293.1:c.530T>C	ENSP00000513230.1:p.Phe177Ser
ENST00000697294.1:c.*141T>C	ENSP00000513231.1:n.*141T>C
ENST00000697295.1:c.37+6251T>C	ENSP00000513232.1:n.37+6251T>C
ENST00000697296.1:c.*198T>C	ENSP00000513233.1:n.*198T>C
ENST00000697297.1:n.2315T>C
ENST00000697298.1:c.284T>C	ENSP00000513234.1:p.Phe95Ser
ENST00000697299.1:c.284T>C	ENSP00000513235.1:p.Phe95Ser
ENST00000697300.1:c.*134T>C	ENSP00000513236.1:n.*134T>C
ENST00000697301.1:c.*51T>C	ENSP00000513237.1:n.*51T>C
ENST00000697302.1:c.*51T>C	ENSP00000513238.1:n.*51T>C
ENST00000697303.1:c.*134T>C	ENSP00000513239.1:n.*134T>C
ENST00000697304.1:c.530T>C	ENSP00000513240.1:p.Phe177Ser
ENST00000697306.1:c.480+2460T>C	ENSP00000513241.1:n.480+2460T>C
ENST00000697307.1:c.530T>C	ENSP00000513242.1:p.Phe177Ser
ENST00000697308.1:c.530T>C	ENSP00000513243.1:p.Phe177Ser
ENST00000697309.1:c.530T>C	ENSP00000513244.1:p.Phe177Ser
ENST00000697310.1:c.530T>C	ENSP00000513245.1:p.Phe177Ser
ENST00000697311.1:c.530T>C	ENSP00000513246.1:p.Phe177Ser
ENST00000697312.1:c.480+2460T>C	ENSP00000513247.1:n.480+2460T>C
ENST00000697313.1:n.2321T>C
ENST00000697314.1:n.2321T>C
ENST00000697315.1:c.530T>C	ENSP00000513248.1:p.Phe177Ser
ENST00000697316.1:n.651T>C
ENST00000697317.1:n.640T>C
ENST00000697318.1:n.642T>C
ENST00000265433.8:c.530T>C MANE Select	ENSP00000265433.4:p.Phe177Ser
ENST00000265433.7:c.530T>C	ENSP00000265433.3:p.Phe177Ser
ENST00000396252.6:c.*403T>C	ENSP00000379551.2:n.*403T>C
ENST00000409330.5:c.284T>C	ENSP00000386924.1:p.Phe95Ser
ENST00000517772.5:c.284T>C	ENSP00000428717.1:p.Phe95Ser
ENST00000519426.5:c.320+3101T>C	ENSP00000430983.1:n.320+3101T>C
NM_001024688.2:c.284T>C	NP_001019859.1:p.Phe95Ser
NM_002485.4:c.530T>C , LRG_158t1:c.530T>C	NP_002476.2:p.Phe177Ser
XM_011517044.1:c.506T>C	XP_011515346.1:p.Phe169Ser
XM_011517045.1:c.284T>C	XP_011515347.1:p.Phe95Ser
XM_011517046.1:c.530T>C	XP_011515348.1:p.Phe177Ser
XR_928335.1:n.667T>C
XM_017013460.1:c.-350T>C	XP_016868949.1:n.-350T>C
XM_017013462.2:c.-296+2460T>C	XP_016868951.1:n.-296+2460T>C
XM_024447163.1:c.284T>C	XP_024302931.1:p.Phe95Ser
XM_024447164.1:c.284T>C	XP_024302932.1:p.Phe95Ser
XM_024447165.1:c.-350T>C	XP_024302933.1:n.-350T>C
NM_002485.5:c.530T>C MANE Select	NP_002476.2:p.Phe177Ser
NM_001024688.3:c.284T>C	NP_001019859.1:p.Phe95Ser