Canonical Allele Identifier: CA371658370

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90982632G>C (hg19) ; chr8:g.89970404G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970404G>C , CM000670.2:g.89970404G>C	GRCh38
NC_000008.10:g.90982632G>C , CM000670.1:g.90982632G>C	GRCh37
NC_000008.9:g.91051808G>C	NCBI36
NG_008860.1:g.19268C>G , LRG_158:g.19268C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2158C>G
ENST00000517337.2:c.610C>G	ENSP00000429971.2:p.Gln204Glu
ENST00000523444.2:c.610C>G	ENSP00000428252.2:p.Gln204Glu
ENST00000697292.1:c.856C>G	ENSP00000513229.1:p.Gln286Glu
ENST00000697293.1:c.856C>G	ENSP00000513230.1:p.Gln286Glu
ENST00000697294.1:c.*467C>G	ENSP00000513231.1:n.*467C>G
ENST00000697295.1:c.*165C>G	ENSP00000513232.1:n.*165C>G
ENST00000697296.1:c.*524C>G	ENSP00000513233.1:n.*524C>G
ENST00000697297.1:n.2641C>G
ENST00000697298.1:c.610C>G	ENSP00000513234.1:p.Gln204Glu
ENST00000697299.1:c.610C>G	ENSP00000513235.1:p.Gln204Glu
ENST00000697300.1:c.*460C>G	ENSP00000513236.1:n.*460C>G
ENST00000697301.1:c.*377C>G	ENSP00000513237.1:n.*377C>G
ENST00000697302.1:c.*377C>G	ENSP00000513238.1:n.*377C>G
ENST00000697303.1:c.*460C>G	ENSP00000513239.1:n.*460C>G
ENST00000697304.1:c.585-5897C>G	ENSP00000513240.1:n.585-5897C>G
ENST00000697306.1:c.480+10330C>G	ENSP00000513241.1:n.480+10330C>G
ENST00000697307.1:c.856C>G	ENSP00000513242.1:p.Gln286Glu
ENST00000697308.1:c.856C>G	ENSP00000513243.1:p.Gln286Glu
ENST00000697309.1:c.856C>G	ENSP00000513244.1:p.Gln286Glu
ENST00000697310.1:c.856C>G	ENSP00000513245.1:p.Gln286Glu
ENST00000697311.1:c.856C>G	ENSP00000513246.1:p.Gln286Glu
ENST00000697312.1:c.*254C>G	ENSP00000513247.1:n.*254C>G
ENST00000697313.1:n.2647C>G
ENST00000697314.1:n.2647C>G
ENST00000697315.1:c.856C>G	ENSP00000513248.1:p.Gln286Glu
ENST00000697316.1:n.977C>G
ENST00000697317.1:n.966C>G
ENST00000697318.1:n.968C>G
ENST00000265433.8:c.856C>G MANE Select	ENSP00000265433.4:p.Gln286Glu
ENST00000265433.7:c.856C>G	ENSP00000265433.3:p.Gln286Glu
ENST00000396252.6:c.*729C>G	ENSP00000379551.2:n.*729C>G
ENST00000409330.5:c.610C>G	ENSP00000386924.1:p.Gln204Glu
NM_001024688.2:c.610C>G	NP_001019859.1:p.Gln204Glu
NM_002485.4:c.856C>G , LRG_158t1:c.856C>G	NP_002476.2:p.Gln286Glu
XM_011517044.1:c.832C>G	XP_011515346.1:p.Gln278Glu
XM_011517045.1:c.610C>G	XP_011515347.1:p.Gln204Glu
XM_011517046.1:c.856C>G	XP_011515348.1:p.Gln286Glu
XR_928335.1:n.993C>G
XM_017013460.1:c.-24C>G	XP_016868949.1:n.-24C>G
XM_017013462.2:c.-24C>G	XP_016868951.1:n.-24C>G
XM_024447163.1:c.610C>G	XP_024302931.1:p.Gln204Glu
XM_024447164.1:c.610C>G	XP_024302932.1:p.Gln204Glu
XM_024447165.1:c.-24C>G	XP_024302933.1:n.-24C>G
NM_002485.5:c.856C>G MANE Select	NP_002476.2:p.Gln286Glu
NM_001024688.3:c.610C>G	NP_001019859.1:p.Gln204Glu