Canonical Allele Identifier: CA287950

Gene: NBN

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970472A>G , CM000670.2:g.89970472A>G	GRCh38
NC_000008.10:g.90982700A>G , CM000670.1:g.90982700A>G	GRCh37
NC_000008.9:g.91051876A>G	NCBI36
NG_008860.1:g.19200T>C , LRG_158:g.19200T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2090T>C
ENST00000517337.2:c.542T>C	ENSP00000429971.2:p.Phe181Ser
ENST00000523444.2:c.542T>C	ENSP00000428252.2:p.Phe181Ser
ENST00000697292.1:c.788T>C	ENSP00000513229.1:p.Phe263Ser
ENST00000697293.1:c.788T>C	ENSP00000513230.1:p.Phe263Ser
ENST00000697294.1:c.*399T>C	ENSP00000513231.1:n.*399T>C
ENST00000697295.1:c.*97T>C	ENSP00000513232.1:n.*97T>C
ENST00000697296.1:c.*456T>C	ENSP00000513233.1:n.*456T>C
ENST00000697297.1:n.2573T>C
ENST00000697298.1:c.542T>C	ENSP00000513234.1:p.Phe181Ser
ENST00000697299.1:c.542T>C	ENSP00000513235.1:p.Phe181Ser
ENST00000697300.1:c.*392T>C	ENSP00000513236.1:n.*392T>C
ENST00000697301.1:c.*309T>C	ENSP00000513237.1:n.*309T>C
ENST00000697302.1:c.*309T>C	ENSP00000513238.1:n.*309T>C
ENST00000697303.1:c.*392T>C	ENSP00000513239.1:n.*392T>C
ENST00000697304.1:c.585-5965T>C	ENSP00000513240.1:n.585-5965T>C
ENST00000697306.1:c.480+10262T>C	ENSP00000513241.1:n.480+10262T>C
ENST00000697307.1:c.788T>C	ENSP00000513242.1:p.Phe263Ser
ENST00000697308.1:c.788T>C	ENSP00000513243.1:p.Phe263Ser
ENST00000697309.1:c.788T>C	ENSP00000513244.1:p.Phe263Ser
ENST00000697310.1:c.788T>C	ENSP00000513245.1:p.Phe263Ser
ENST00000697311.1:c.788T>C	ENSP00000513246.1:p.Phe263Ser
ENST00000697312.1:c.*186T>C	ENSP00000513247.1:n.*186T>C
ENST00000697313.1:n.2579T>C
ENST00000697314.1:n.2579T>C
ENST00000697315.1:c.788T>C	ENSP00000513248.1:p.Phe263Ser
ENST00000697316.1:n.909T>C
ENST00000697317.1:n.898T>C
ENST00000697318.1:n.900T>C
ENST00000265433.8:c.788T>C MANE Select	ENSP00000265433.4:p.Phe263Ser
ENST00000265433.7:c.788T>C	ENSP00000265433.3:p.Phe263Ser
ENST00000396252.6:c.*661T>C	ENSP00000379551.2:n.*661T>C
ENST00000409330.5:c.542T>C	ENSP00000386924.1:p.Phe181Ser
NM_001024688.2:c.542T>C	NP_001019859.1:p.Phe181Ser
NM_002485.4:c.788T>C , LRG_158t1:c.788T>C	NP_002476.2:p.Phe263Ser
XM_011517044.1:c.764T>C	XP_011515346.1:p.Phe255Ser
XM_011517045.1:c.542T>C	XP_011515347.1:p.Phe181Ser
XM_011517046.1:c.788T>C	XP_011515348.1:p.Phe263Ser
XR_928335.1:n.925T>C
XM_017013460.1:c.-92T>C	XP_016868949.1:n.-92T>C
XM_017013462.2:c.-92T>C	XP_016868951.1:n.-92T>C
XM_024447163.1:c.542T>C	XP_024302931.1:p.Phe181Ser
XM_024447164.1:c.542T>C	XP_024302932.1:p.Phe181Ser
XM_024447165.1:c.-92T>C	XP_024302933.1:n.-92T>C
NM_002485.5:c.788T>C MANE Select	NP_002476.2:p.Phe263Ser
NM_001024688.3:c.542T>C	NP_001019859.1:p.Phe181Ser