Canonical Allele Identifier: CA371676628

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90958479C>G (hg19) ; chr8:g.89946251C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946251C>G , CM000670.2:g.89946251C>G	GRCh38
NC_000008.10:g.90958479C>G , CM000670.1:g.90958479C>G	GRCh37
NC_000008.9:g.91027655C>G	NCBI36
NG_008860.1:g.43421G>C , LRG_158:g.43421G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3261G>C
ENST00000517337.2:c.1713G>C	ENSP00000429971.2:p.Lys571Asn
ENST00000523444.2:c.1713G>C	ENSP00000428252.2:p.Lys571Asn
ENST00000697292.1:c.1959G>C	ENSP00000513229.1:p.Lys653Asn
ENST00000697293.1:c.1959G>C	ENSP00000513230.1:p.Lys653Asn
ENST00000697294.1:c.*1570G>C	ENSP00000513231.1:n.*1570G>C
ENST00000697295.1:c.*1268G>C	ENSP00000513232.1:n.*1268G>C
ENST00000697296.1:c.*1627G>C	ENSP00000513233.1:n.*1627G>C
ENST00000697297.1:n.3744G>C
ENST00000697298.1:c.1713G>C	ENSP00000513234.1:p.Lys571Asn
ENST00000697299.1:c.1713G>C	ENSP00000513235.1:p.Lys571Asn
ENST00000697300.1:c.*1563G>C	ENSP00000513236.1:n.*1563G>C
ENST00000697301.1:c.*1480G>C	ENSP00000513237.1:n.*1480G>C
ENST00000697302.1:c.*1480G>C	ENSP00000513238.1:n.*1480G>C
ENST00000697303.1:c.*1563G>C	ENSP00000513239.1:n.*1563G>C
ENST00000697304.1:c.1647G>C	ENSP00000513240.1:p.Lys549Asn
ENST00000697306.1:c.*2510G>C	ENSP00000513241.1:n.*2510G>C
ENST00000697307.1:c.1846-2885G>C	ENSP00000513242.1:n.1846-2885G>C
ENST00000697308.1:c.1890G>C	ENSP00000513243.1:p.Lys630Asn
ENST00000697309.1:c.1959G>C	ENSP00000513244.1:p.Lys653Asn
ENST00000697310.1:c.1959G>C	ENSP00000513245.1:p.Lys653Asn
ENST00000697311.1:c.1959G>C	ENSP00000513246.1:p.Lys653Asn
ENST00000697312.1:c.*1357G>C	ENSP00000513247.1:n.*1357G>C
ENST00000697313.1:n.2688-10639G>C
ENST00000697314.1:n.3636+6993G>C
ENST00000697315.1:c.1959G>C	ENSP00000513248.1:p.Lys653Asn
ENST00000697316.1:n.2080G>C
ENST00000697317.1:n.2050G>C
ENST00000265433.8:c.1959G>C MANE Select	ENSP00000265433.4:p.Lys653Asn
ENST00000265433.7:c.1959G>C	ENSP00000265433.3:p.Lys653Asn
ENST00000396252.6:c.*1832G>C	ENSP00000379551.2:n.*1832G>C
ENST00000409330.5:c.1713G>C	ENSP00000386924.1:p.Lys571Asn
ENST00000520325.1:n.375G>C
ENST00000613033.1:c.180+1573G>C	ENSP00000484487.1:n.180+1573G>C
NM_001024688.2:c.1713G>C	NP_001019859.1:p.Lys571Asn
NM_002485.4:c.1959G>C , LRG_158t1:c.1959G>C	NP_002476.2:p.Lys653Asn
XM_011517044.1:c.1935G>C	XP_011515346.1:p.Lys645Asn
XM_011517045.1:c.1713G>C	XP_011515347.1:p.Lys571Asn
XM_017013460.1:c.1080G>C	XP_016868949.1:p.Lys360Asn
XM_017013462.2:c.1080G>C	XP_016868951.1:p.Lys360Asn
XM_024447163.1:c.1713G>C	XP_024302931.1:p.Lys571Asn
XM_024447164.1:c.1713G>C	XP_024302932.1:p.Lys571Asn
XM_024447165.1:c.1080G>C	XP_024302933.1:p.Lys360Asn
NM_002485.5:c.1959G>C MANE Select	NP_002476.2:p.Lys653Asn
NM_001024688.3:c.1713G>C	NP_001019859.1:p.Lys571Asn