Canonical Allele Identifier: CA371674823

Gene: NBN

Linked Data

• gnomAD v4: 8-89937066-G-T
• COSMIC: COSM5563918
• MyVariant Identifiers: chr8:g.90949294G>T (hg19) ; chr8:g.89937066G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937066G>T , CM000670.2:g.89937066G>T	GRCh38
NC_000008.10:g.90949294G>T , CM000670.1:g.90949294G>T	GRCh37
NC_000008.9:g.91018470G>T	NCBI36
NG_008860.1:g.52606C>A , LRG_158:g.52606C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3614C>A
ENST00000494804.2:n.3496C>A
ENST00000517337.2:c.1948C>A	ENSP00000429971.2:p.Gln650Lys
ENST00000523444.2:c.1948C>A	ENSP00000428252.2:p.Gln650Lys
ENST00000697292.1:c.2194C>A	ENSP00000513229.1:p.Gln732Lys
ENST00000697293.1:c.2245C>A	ENSP00000513230.1:p.Gln749Lys
ENST00000697294.1:c.*1805C>A	ENSP00000513231.1:n.*1805C>A
ENST00000697295.1:c.*1503C>A	ENSP00000513232.1:n.*1503C>A
ENST00000697296.1:c.*1862C>A	ENSP00000513233.1:n.*1862C>A
ENST00000697297.1:n.3979C>A
ENST00000697298.1:c.1948C>A	ENSP00000513234.1:p.Gln650Lys
ENST00000697299.1:c.1948C>A	ENSP00000513235.1:p.Gln650Lys
ENST00000697300.1:c.*1798C>A	ENSP00000513236.1:n.*1798C>A
ENST00000697301.1:c.*1715C>A	ENSP00000513237.1:n.*1715C>A
ENST00000697302.1:c.*1715C>A	ENSP00000513238.1:n.*1715C>A
ENST00000697303.1:c.*1798C>A	ENSP00000513239.1:n.*1798C>A
ENST00000697304.1:c.1882C>A	ENSP00000513240.1:p.Gln628Lys
ENST00000697305.1:n.2461C>A
ENST00000697306.1:c.*2745C>A	ENSP00000513241.1:n.*2745C>A
ENST00000697307.1:c.1969C>A	ENSP00000513242.1:p.Gln657Lys
ENST00000697308.1:c.2125C>A	ENSP00000513243.1:p.Gln709Lys
ENST00000697309.1:c.2185-1454C>A	ENSP00000513244.1:n.2185-1454C>A
ENST00000697310.1:c.2194C>A	ENSP00000513245.1:p.Gln732Lys
ENST00000697311.1:c.*459C>A	ENSP00000513246.1:n.*459C>A
ENST00000697312.1:c.*1647C>A	ENSP00000513247.1:n.*1647C>A
ENST00000697313.1:n.2688-1454C>A
ENST00000697314.1:n.3637-1454C>A
ENST00000697315.1:c.*98C>A	ENSP00000513248.1:n.*98C>A
ENST00000697316.1:n.2315C>A
ENST00000265433.8:c.2194C>A MANE Select	ENSP00000265433.4:p.Gln732Lys
ENST00000265433.7:c.2194C>A	ENSP00000265433.3:p.Gln732Lys
ENST00000396252.6:c.*2067C>A	ENSP00000379551.2:n.*2067C>A
ENST00000409330.5:c.1948C>A	ENSP00000386924.1:p.Gln650Lys
ENST00000474821.1:n.282C>A
ENST00000613033.1:c.304C>A	ENSP00000484487.1:p.Gln102Lys
NM_001024688.2:c.1948C>A	NP_001019859.1:p.Gln650Lys
NM_002485.4:c.2194C>A , LRG_158t1:c.2194C>A	NP_002476.2:p.Gln732Lys
XM_011517044.1:c.2170C>A	XP_011515346.1:p.Gln724Lys
XM_011517045.1:c.1948C>A	XP_011515347.1:p.Gln650Lys
XM_017013460.1:c.1315C>A	XP_016868949.1:p.Gln439Lys
XM_017013462.2:c.1315C>A	XP_016868951.1:p.Gln439Lys
XM_024447163.1:c.1948C>A	XP_024302931.1:p.Gln650Lys
XM_024447164.1:c.1948C>A	XP_024302932.1:p.Gln650Lys
XM_024447165.1:c.1315C>A	XP_024302933.1:p.Gln439Lys
NM_002485.5:c.2194C>A MANE Select	NP_002476.2:p.Gln732Lys
NM_001024688.3:c.1948C>A	NP_001019859.1:p.Gln650Lys