Canonical Allele Identifier: CA371658234

Gene: NBN

Linked Data

• ClinVar Variation Id: 1764804
• ClinVar RCV Id: RCV002373770
• gnomAD v4: 8-89970378-C-T
• MyVariant Identifiers: chr8:g.90982606C>T (hg19) ; chr8:g.89970378C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89970378C>T , CM000670.2:g.89970378C>T	GRCh38
NC_000008.10:g.90982606C>T , CM000670.1:g.90982606C>T	GRCh37
NC_000008.9:g.91051782C>T	NCBI36
NG_008860.1:g.19294G>A , LRG_158:g.19294G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.2184G>A
ENST00000517337.2:c.636G>A	ENSP00000429971.2:p.Met212Ile
ENST00000523444.2:c.636G>A	ENSP00000428252.2:p.Met212Ile
ENST00000697292.1:c.882G>A	ENSP00000513229.1:p.Met294Ile
ENST00000697293.1:c.882G>A	ENSP00000513230.1:p.Met294Ile
ENST00000697294.1:c.*493G>A	ENSP00000513231.1:n.*493G>A
ENST00000697295.1:c.*191G>A	ENSP00000513232.1:n.*191G>A
ENST00000697296.1:c.*550G>A	ENSP00000513233.1:n.*550G>A
ENST00000697297.1:n.2667G>A
ENST00000697298.1:c.636G>A	ENSP00000513234.1:p.Met212Ile
ENST00000697299.1:c.636G>A	ENSP00000513235.1:p.Met212Ile
ENST00000697300.1:c.*486G>A	ENSP00000513236.1:n.*486G>A
ENST00000697301.1:c.*403G>A	ENSP00000513237.1:n.*403G>A
ENST00000697302.1:c.*403G>A	ENSP00000513238.1:n.*403G>A
ENST00000697303.1:c.*486G>A	ENSP00000513239.1:n.*486G>A
ENST00000697304.1:c.585-5871G>A	ENSP00000513240.1:n.585-5871G>A
ENST00000697306.1:c.480+10356G>A	ENSP00000513241.1:n.480+10356G>A
ENST00000697307.1:c.882G>A	ENSP00000513242.1:p.Met294Ile
ENST00000697308.1:c.882G>A	ENSP00000513243.1:p.Met294Ile
ENST00000697309.1:c.882G>A	ENSP00000513244.1:p.Met294Ile
ENST00000697310.1:c.882G>A	ENSP00000513245.1:p.Met294Ile
ENST00000697311.1:c.882G>A	ENSP00000513246.1:p.Met294Ile
ENST00000697312.1:c.*280G>A	ENSP00000513247.1:n.*280G>A
ENST00000697313.1:n.2673G>A
ENST00000697314.1:n.2673G>A
ENST00000697315.1:c.882G>A	ENSP00000513248.1:p.Met294Ile
ENST00000697316.1:n.1003G>A
ENST00000697317.1:n.992G>A
ENST00000697318.1:n.994G>A
ENST00000265433.8:c.882G>A MANE Select	ENSP00000265433.4:p.Met294Ile
ENST00000265433.7:c.882G>A	ENSP00000265433.3:p.Met294Ile
ENST00000396252.6:c.*755G>A	ENSP00000379551.2:n.*755G>A
ENST00000409330.5:c.636G>A	ENSP00000386924.1:p.Met212Ile
NM_001024688.2:c.636G>A	NP_001019859.1:p.Met212Ile
NM_002485.4:c.882G>A , LRG_158t1:c.882G>A	NP_002476.2:p.Met294Ile
XM_011517044.1:c.858G>A	XP_011515346.1:p.Met286Ile
XM_011517045.1:c.636G>A	XP_011515347.1:p.Met212Ile
XM_011517046.1:c.882G>A	XP_011515348.1:p.Met294Ile
XR_928335.1:n.1019G>A
XM_017013460.1:c.3G>A	XP_016868949.1:p.Met1Ile
XM_017013462.2:c.3G>A	XP_016868951.1:p.Met1Ile
XM_024447163.1:c.636G>A	XP_024302931.1:p.Met212Ile
XM_024447164.1:c.636G>A	XP_024302932.1:p.Met212Ile
XM_024447165.1:c.3G>A	XP_024302933.1:p.Met1Ile
NM_002485.5:c.882G>A MANE Select	NP_002476.2:p.Met294Ile
NM_001024688.3:c.636G>A	NP_001019859.1:p.Met212Ile