Canonical Allele Identifier: CA461830719

Gene: NBN

Linked Data

• ClinVar Variation Id: 1768109
• ClinVar RCV Id: RCV002387122
• MyVariant Identifiers: chr8:g.90976657A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89964429A>T , CM000670.2:g.89964429A>T	GRCh38
NC_000008.10:g.90976657A>T , CM000670.1:g.90976657A>T	GRCh37
NC_000008.9:g.91045833A>T	NCBI36
NG_008860.1:g.25243T>A , LRG_158:g.25243T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000494804.2:n.2277T>A
ENST00000517337.2:c.729T>A	ENSP00000429971.2:p.Pro243=
ENST00000523444.2:c.729T>A	ENSP00000428252.2:p.Pro243=
ENST00000697292.1:c.975T>A	ENSP00000513229.1:p.Pro325=
ENST00000697293.1:c.975T>A	ENSP00000513230.1:p.Pro325=
ENST00000697294.1:c.*586T>A	ENSP00000513231.1:n.*586T>A
ENST00000697295.1:c.*284T>A	ENSP00000513232.1:n.*284T>A
ENST00000697296.1:c.*643T>A	ENSP00000513233.1:n.*643T>A
ENST00000697297.1:n.2760T>A
ENST00000697298.1:c.729T>A	ENSP00000513234.1:p.Pro243=
ENST00000697299.1:c.729T>A	ENSP00000513235.1:p.Pro243=
ENST00000697300.1:c.*579T>A	ENSP00000513236.1:n.*579T>A
ENST00000697301.1:c.*496T>A	ENSP00000513237.1:n.*496T>A
ENST00000697302.1:c.*496T>A	ENSP00000513238.1:n.*496T>A
ENST00000697303.1:c.*579T>A	ENSP00000513239.1:n.*579T>A
ENST00000697304.1:c.663T>A	ENSP00000513240.1:p.Pro221=
ENST00000697306.1:c.481-5575T>A	ENSP00000513241.1:n.481-5575T>A
ENST00000697307.1:c.975T>A	ENSP00000513242.1:p.Pro325=
ENST00000697308.1:c.975T>A	ENSP00000513243.1:p.Pro325=
ENST00000697309.1:c.975T>A	ENSP00000513244.1:p.Pro325=
ENST00000697310.1:c.975T>A	ENSP00000513245.1:p.Pro325=
ENST00000697311.1:c.975T>A	ENSP00000513246.1:p.Pro325=
ENST00000697312.1:c.*373T>A	ENSP00000513247.1:n.*373T>A
ENST00000697313.1:n.2687+5935T>A
ENST00000697314.1:n.2766T>A
ENST00000697315.1:c.975T>A	ENSP00000513248.1:p.Pro325=
ENST00000697316.1:n.1096T>A
ENST00000697317.1:n.1085T>A
ENST00000697318.1:n.1087T>A
ENST00000265433.8:c.975T>A MANE Select	ENSP00000265433.4:p.Pro325=
ENST00000265433.7:c.975T>A	ENSP00000265433.3:p.Pro325=
ENST00000396252.6:c.*848T>A	ENSP00000379551.2:n.*848T>A
ENST00000409330.5:c.729T>A	ENSP00000386924.1:p.Pro243=
NM_001024688.2:c.729T>A	NP_001019859.1:p.Pro243=
NM_002485.4:c.975T>A , LRG_158t1:c.975T>A	NP_002476.2:p.Pro325=
XM_011517044.1:c.951T>A	XP_011515346.1:p.Pro317=
XM_011517045.1:c.729T>A	XP_011515347.1:p.Pro243=
XM_011517046.1:c.975T>A	XP_011515348.1:p.Pro325=
XR_928335.1:n.1112T>A
XM_017013460.1:c.96T>A	XP_016868949.1:p.Pro32=
XM_017013462.2:c.96T>A	XP_016868951.1:p.Pro32=
XM_024447163.1:c.729T>A	XP_024302931.1:p.Pro243=
XM_024447164.1:c.729T>A	XP_024302932.1:p.Pro243=
XM_024447165.1:c.96T>A	XP_024302933.1:p.Pro32=
NM_002485.5:c.975T>A MANE Select	NP_002476.2:p.Pro325=
NM_001024688.3:c.729T>A	NP_001019859.1:p.Pro243=