Canonical Allele Identifier: CA371674824

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949295A>C (hg19) ; chr8:g.89937067A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937067A>C , CM000670.2:g.89937067A>C	GRCh38
NC_000008.10:g.90949295A>C , CM000670.1:g.90949295A>C	GRCh37
NC_000008.9:g.91018471A>C	NCBI36
NG_008860.1:g.52605T>G , LRG_158:g.52605T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3613T>G
ENST00000494804.2:n.3495T>G
ENST00000517337.2:c.1947T>G	ENSP00000429971.2:p.Asn649Lys
ENST00000523444.2:c.1947T>G	ENSP00000428252.2:p.Asn649Lys
ENST00000697292.1:c.2193T>G	ENSP00000513229.1:p.Asn731Lys
ENST00000697293.1:c.2244T>G	ENSP00000513230.1:p.Asn748Lys
ENST00000697294.1:c.*1804T>G	ENSP00000513231.1:n.*1804T>G
ENST00000697295.1:c.*1502T>G	ENSP00000513232.1:n.*1502T>G
ENST00000697296.1:c.*1861T>G	ENSP00000513233.1:n.*1861T>G
ENST00000697297.1:n.3978T>G
ENST00000697298.1:c.1947T>G	ENSP00000513234.1:p.Asn649Lys
ENST00000697299.1:c.1947T>G	ENSP00000513235.1:p.Asn649Lys
ENST00000697300.1:c.*1797T>G	ENSP00000513236.1:n.*1797T>G
ENST00000697301.1:c.*1714T>G	ENSP00000513237.1:n.*1714T>G
ENST00000697302.1:c.*1714T>G	ENSP00000513238.1:n.*1714T>G
ENST00000697303.1:c.*1797T>G	ENSP00000513239.1:n.*1797T>G
ENST00000697304.1:c.1881T>G	ENSP00000513240.1:p.Asn627Lys
ENST00000697305.1:n.2460T>G
ENST00000697306.1:c.*2744T>G	ENSP00000513241.1:n.*2744T>G
ENST00000697307.1:c.1968T>G	ENSP00000513242.1:p.Asn656Lys
ENST00000697308.1:c.2124T>G	ENSP00000513243.1:p.Asn708Lys
ENST00000697309.1:c.2185-1455T>G	ENSP00000513244.1:n.2185-1455T>G
ENST00000697310.1:c.2193T>G	ENSP00000513245.1:p.Asn731Lys
ENST00000697311.1:c.*458T>G	ENSP00000513246.1:n.*458T>G
ENST00000697312.1:c.*1646T>G	ENSP00000513247.1:n.*1646T>G
ENST00000697313.1:n.2688-1455T>G
ENST00000697314.1:n.3637-1455T>G
ENST00000697315.1:c.*97T>G	ENSP00000513248.1:n.*97T>G
ENST00000697316.1:n.2314T>G
ENST00000265433.8:c.2193T>G MANE Select	ENSP00000265433.4:p.Asn731Lys
ENST00000265433.7:c.2193T>G	ENSP00000265433.3:p.Asn731Lys
ENST00000396252.6:c.*2066T>G	ENSP00000379551.2:n.*2066T>G
ENST00000409330.5:c.1947T>G	ENSP00000386924.1:p.Asn649Lys
ENST00000474821.1:n.281T>G
ENST00000613033.1:c.303T>G	ENSP00000484487.1:p.Asn101Lys
NM_001024688.2:c.1947T>G	NP_001019859.1:p.Asn649Lys
NM_002485.4:c.2193T>G , LRG_158t1:c.2193T>G	NP_002476.2:p.Asn731Lys
XM_011517044.1:c.2169T>G	XP_011515346.1:p.Asn723Lys
XM_011517045.1:c.1947T>G	XP_011515347.1:p.Asn649Lys
XM_017013460.1:c.1314T>G	XP_016868949.1:p.Asn438Lys
XM_017013462.2:c.1314T>G	XP_016868951.1:p.Asn438Lys
XM_024447163.1:c.1947T>G	XP_024302931.1:p.Asn649Lys
XM_024447164.1:c.1947T>G	XP_024302932.1:p.Asn649Lys
XM_024447165.1:c.1314T>G	XP_024302933.1:p.Asn438Lys
NM_002485.5:c.2193T>G MANE Select	NP_002476.2:p.Asn731Lys
NM_001024688.3:c.1947T>G	NP_001019859.1:p.Asn649Lys