Canonical Allele Identifier: CA4802582

Gene: NBN

Linked Data

• ClinVar Variation Id: 919108
• ClinVar RCV Id: RCV002068181
• dbSNP Id: rs763071338
• ExAC: 8:90949240 G / C
• gnomAD v2: 8-90949240-G-C
• gnomAD v3: 8-89937012-G-C
• gnomAD v4: 8-89937012-G-C
• MyVariant Identifiers: chr8:g.90949240G>C (hg19) ; chr8:g.89937012G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937012G>C , CM000670.2:g.89937012G>C	GRCh38
NC_000008.10:g.90949240G>C , CM000670.1:g.90949240G>C	GRCh37
NC_000008.9:g.91018416G>C	NCBI36
NG_008860.1:g.52660C>G , LRG_158:g.52660C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000474821.2:n.3654+14C>G
ENST00000494804.2:n.3536+14C>G
ENST00000517337.2:c.1988+14C>G	ENSP00000429971.2:n.1988+14C>G
ENST00000523444.2:c.1988+14C>G	ENSP00000428252.2:n.1988+14C>G
ENST00000697292.1:c.2234+14C>G	ENSP00000513229.1:n.2234+14C>G
ENST00000697293.1:c.2285+14C>G	ENSP00000513230.1:n.2285+14C>G
ENST00000697294.1:c.*1845+14C>G	ENSP00000513231.1:n.*1845+14C>G
ENST00000697295.1:c.*1543+14C>G	ENSP00000513232.1:n.*1543+14C>G
ENST00000697296.1:c.*1902+14C>G	ENSP00000513233.1:n.*1902+14C>G
ENST00000697297.1:n.4019+14C>G
ENST00000697298.1:c.1988+14C>G	ENSP00000513234.1:n.1988+14C>G
ENST00000697299.1:c.1988+14C>G	ENSP00000513235.1:n.1988+14C>G
ENST00000697300.1:c.*1838+14C>G	ENSP00000513236.1:n.*1838+14C>G
ENST00000697301.1:c.*1755+14C>G	ENSP00000513237.1:n.*1755+14C>G
ENST00000697302.1:c.*1755+14C>G	ENSP00000513238.1:n.*1755+14C>G
ENST00000697303.1:c.*1838+14C>G	ENSP00000513239.1:n.*1838+14C>G
ENST00000697304.1:c.1922+14C>G	ENSP00000513240.1:n.1922+14C>G
ENST00000697305.1:n.2501+14C>G
ENST00000697306.1:c.*2785+14C>G	ENSP00000513241.1:n.*2785+14C>G
ENST00000697307.1:c.2009+14C>G	ENSP00000513242.1:n.2009+14C>G
ENST00000697308.1:c.2165+14C>G	ENSP00000513243.1:n.2165+14C>G
ENST00000697309.1:c.2185-1400C>G	ENSP00000513244.1:n.2185-1400C>G
ENST00000697310.1:c.2234+14C>G	ENSP00000513245.1:n.2234+14C>G
ENST00000697311.1:c.*499+14C>G	ENSP00000513246.1:n.*499+14C>G
ENST00000697312.1:c.*1687+14C>G	ENSP00000513247.1:n.*1687+14C>G
ENST00000697313.1:n.2688-1400C>G
ENST00000697314.1:n.3637-1400C>G
ENST00000697315.1:c.*138+14C>G	ENSP00000513248.1:n.*138+14C>G
ENST00000697316.1:n.2369C>G
ENST00000265433.8:c.2234+14C>G MANE Select	ENSP00000265433.4:n.2234+14C>G
ENST00000265433.7:c.2234+14C>G	ENSP00000265433.3:n.2234+14C>G
ENST00000396252.6:c.*2107+14C>G	ENSP00000379551.2:n.*2107+14C>G
ENST00000409330.5:c.1988+14C>G	ENSP00000386924.1:n.1988+14C>G
ENST00000474821.1:n.322+14C>G
ENST00000613033.1:c.344+14C>G	ENSP00000484487.1:n.344+14C>G
NM_001024688.2:c.1988+14C>G	NP_001019859.1:n.1988+14C>G
NM_002485.4:c.2234+14C>G , LRG_158t1:c.2234+14C>G	NP_002476.2:n.2234+14C>G
XM_011517044.1:c.2210+14C>G	XP_011515346.1:n.2210+14C>G
XM_011517045.1:c.1988+14C>G	XP_011515347.1:n.1988+14C>G
XM_017013460.1:c.1355+14C>G	XP_016868949.1:n.1355+14C>G
XM_017013462.2:c.1355+14C>G	XP_016868951.1:n.1355+14C>G
XM_024447163.1:c.1988+14C>G	XP_024302931.1:n.1988+14C>G
XM_024447164.1:c.1988+14C>G	XP_024302932.1:n.1988+14C>G
XM_024447165.1:c.1355+14C>G	XP_024302933.1:n.1355+14C>G
NM_002485.5:c.2234+14C>G MANE Select	NP_002476.2:n.2234+14C>G
NM_001024688.3:c.1988+14C>G	NP_001019859.1:n.1988+14C>G