Canonical Allele Identifier: CA371676341

Gene: NBN

Linked Data

• ClinVar Variation Id: 1365162
• ClinVar RCV Id: RCV001929721
• dbSNP Id: rs2130763599
• MyVariant Identifiers: chr8:g.90958380C>A (hg19) ; chr8:g.89946152C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946152C>A , CM000670.2:g.89946152C>A	GRCh38
NC_000008.10:g.90958380C>A , CM000670.1:g.90958380C>A	GRCh37
NC_000008.9:g.91027556C>A	NCBI36
NG_008860.1:g.43520G>T , LRG_158:g.43520G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3360G>T
ENST00000517337.2:c.1812G>T	ENSP00000429971.2:p.Lys604Asn
ENST00000523444.2:c.1812G>T	ENSP00000428252.2:p.Lys604Asn
ENST00000697292.1:c.2058G>T	ENSP00000513229.1:p.Lys686Asn
ENST00000697293.1:c.2058G>T	ENSP00000513230.1:p.Lys686Asn
ENST00000697294.1:c.*1669G>T	ENSP00000513231.1:n.*1669G>T
ENST00000697295.1:c.*1367G>T	ENSP00000513232.1:n.*1367G>T
ENST00000697296.1:c.*1726G>T	ENSP00000513233.1:n.*1726G>T
ENST00000697297.1:n.3843G>T
ENST00000697298.1:c.1812G>T	ENSP00000513234.1:p.Lys604Asn
ENST00000697299.1:c.1812G>T	ENSP00000513235.1:p.Lys604Asn
ENST00000697300.1:c.*1662G>T	ENSP00000513236.1:n.*1662G>T
ENST00000697301.1:c.*1579G>T	ENSP00000513237.1:n.*1579G>T
ENST00000697302.1:c.*1579G>T	ENSP00000513238.1:n.*1579G>T
ENST00000697303.1:c.*1662G>T	ENSP00000513239.1:n.*1662G>T
ENST00000697304.1:c.1746G>T	ENSP00000513240.1:p.Lys582Asn
ENST00000697306.1:c.*2609G>T	ENSP00000513241.1:n.*2609G>T
ENST00000697307.1:c.1846-2786G>T	ENSP00000513242.1:n.1846-2786G>T
ENST00000697308.1:c.1989G>T	ENSP00000513243.1:p.Lys663Asn
ENST00000697309.1:c.2058G>T	ENSP00000513244.1:p.Lys686Asn
ENST00000697310.1:c.2058G>T	ENSP00000513245.1:p.Lys686Asn
ENST00000697311.1:c.2058G>T	ENSP00000513246.1:p.Lys686Asn
ENST00000697312.1:c.*1456G>T	ENSP00000513247.1:n.*1456G>T
ENST00000697313.1:n.2688-10540G>T
ENST00000697314.1:n.3636+7092G>T
ENST00000697315.1:c.2058G>T	ENSP00000513248.1:p.Lys686Asn
ENST00000697316.1:n.2179G>T
ENST00000697317.1:n.2149G>T
ENST00000265433.8:c.2058G>T MANE Select	ENSP00000265433.4:p.Lys686Asn
ENST00000265433.7:c.2058G>T	ENSP00000265433.3:p.Lys686Asn
ENST00000396252.6:c.*1931G>T	ENSP00000379551.2:n.*1931G>T
ENST00000409330.5:c.1812G>T	ENSP00000386924.1:p.Lys604Asn
ENST00000520325.1:n.474G>T
ENST00000613033.1:c.180+1672G>T	ENSP00000484487.1:n.180+1672G>T
NM_001024688.2:c.1812G>T	NP_001019859.1:p.Lys604Asn
NM_002485.4:c.2058G>T , LRG_158t1:c.2058G>T	NP_002476.2:p.Lys686Asn
XM_011517044.1:c.2034G>T	XP_011515346.1:p.Lys678Asn
XM_011517045.1:c.1812G>T	XP_011515347.1:p.Lys604Asn
XM_017013460.1:c.1179G>T	XP_016868949.1:p.Lys393Asn
XM_017013462.2:c.1179G>T	XP_016868951.1:p.Lys393Asn
XM_024447163.1:c.1812G>T	XP_024302931.1:p.Lys604Asn
XM_024447164.1:c.1812G>T	XP_024302932.1:p.Lys604Asn
XM_024447165.1:c.1179G>T	XP_024302933.1:p.Lys393Asn
NM_002485.5:c.2058G>T MANE Select	NP_002476.2:p.Lys686Asn
NM_001024688.3:c.1812G>T	NP_001019859.1:p.Lys604Asn