Canonical Allele Identifier: CA371664212

Gene: NBN

Linked Data

• gnomAD v4: 8-89984555-T-G
• MyVariant Identifiers: chr8:g.90996783T>G (hg19) ; chr8:g.89984555T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89984555T>G , CM000670.2:g.89984555T>G	GRCh38
NC_000008.10:g.90996783T>G , CM000670.1:g.90996783T>G	GRCh37
NC_000008.9:g.91065959T>G	NCBI36
NG_008860.1:g.5117A>C , LRG_158:g.5117A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.111A>C
ENST00000523444.2:c.-290A>C	ENSP00000428252.2:n.-290A>C
ENST00000697292.1:c.7A>C	ENSP00000513229.1:p.Lys3Gln
ENST00000697293.1:c.7A>C	ENSP00000513230.1:p.Lys3Gln
ENST00000697294.1:c.7A>C	ENSP00000513231.1:p.Lys3Gln
ENST00000697295.1:c.7A>C	ENSP00000513232.1:p.Lys3Gln
ENST00000697296.1:c.7A>C	ENSP00000513233.1:p.Lys3Gln
ENST00000697297.1:n.113A>C
ENST00000697298.1:c.-473A>C	ENSP00000513234.1:n.-473A>C
ENST00000697299.1:c.-106A>C	ENSP00000513235.1:n.-106A>C
ENST00000697300.1:c.-290A>C	ENSP00000513236.1:n.-290A>C
ENST00000697301.1:c.-290A>C	ENSP00000513237.1:n.-290A>C
ENST00000697302.1:c.7A>C	ENSP00000513238.1:p.Lys3Gln
ENST00000697303.1:c.7A>C	ENSP00000513239.1:p.Lys3Gln
ENST00000697304.1:c.7A>C	ENSP00000513240.1:p.Lys3Gln
ENST00000697306.1:c.7A>C	ENSP00000513241.1:p.Lys3Gln
ENST00000697307.1:c.7A>C	ENSP00000513242.1:p.Lys3Gln
ENST00000697308.1:c.7A>C	ENSP00000513243.1:p.Lys3Gln
ENST00000697309.1:c.7A>C	ENSP00000513244.1:p.Lys3Gln
ENST00000697310.1:c.7A>C	ENSP00000513245.1:p.Lys3Gln
ENST00000697311.1:c.7A>C	ENSP00000513246.1:p.Lys3Gln
ENST00000697312.1:c.7A>C	ENSP00000513247.1:p.Lys3Gln
ENST00000697313.1:n.119A>C
ENST00000697314.1:n.119A>C
ENST00000697315.1:c.7A>C	ENSP00000513248.1:p.Lys3Gln
ENST00000697316.1:n.128A>C
ENST00000697317.1:n.117A>C
ENST00000697318.1:n.119A>C
ENST00000265433.8:c.7A>C MANE Select	ENSP00000265433.4:p.Lys3Gln
ENST00000265433.7:c.7A>C	ENSP00000265433.3:p.Lys3Gln
ENST00000396252.6:c.7A>C	ENSP00000379551.2:p.Lys3Gln
ENST00000494804.1:n.111A>C
ENST00000519426.5:c.7A>C	ENSP00000430983.1:p.Lys3Gln
ENST00000523444.1:c.7A>C	ENSP00000428252.1:p.Lys3Gln
NM_001024688.2:c.-290A>C	NP_001019859.1:n.-290A>C
NM_002485.4:c.7A>C , LRG_158t1:c.7A>C	NP_002476.2:p.Lys3Gln
XM_011517046.1:c.7A>C	XP_011515348.1:p.Lys3Gln
XR_928335.1:n.144A>C
XM_017013460.1:c.-1013A>C	XP_016868949.1:n.-1013A>C
XM_017013462.2:c.-819A>C	XP_016868951.1:n.-819A>C
XM_024447165.1:c.-963A>C	XP_024302933.1:n.-963A>C
NM_002485.5:c.7A>C MANE Select	NP_002476.2:p.Lys3Gln
NM_001024688.3:c.-290A>C	NP_001019859.1:n.-290A>C