Canonical Allele Identifier: CA371676623

Gene: NBN

Linked Data

• gnomAD v4: 8-89946250-G-C
• MyVariant Identifiers: chr8:g.90958478G>C (hg19) ; chr8:g.89946250G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89946250G>C , CM000670.2:g.89946250G>C	GRCh38
NC_000008.10:g.90958478G>C , CM000670.1:g.90958478G>C	GRCh37
NC_000008.9:g.91027654G>C	NCBI36
NG_008860.1:g.43422C>G , LRG_158:g.43422C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494804.2:n.3262C>G
ENST00000517337.2:c.1714C>G	ENSP00000429971.2:p.Leu572Val
ENST00000523444.2:c.1714C>G	ENSP00000428252.2:p.Leu572Val
ENST00000697292.1:c.1960C>G	ENSP00000513229.1:p.Leu654Val
ENST00000697293.1:c.1960C>G	ENSP00000513230.1:p.Leu654Val
ENST00000697294.1:c.*1571C>G	ENSP00000513231.1:n.*1571C>G
ENST00000697295.1:c.*1269C>G	ENSP00000513232.1:n.*1269C>G
ENST00000697296.1:c.*1628C>G	ENSP00000513233.1:n.*1628C>G
ENST00000697297.1:n.3745C>G
ENST00000697298.1:c.1714C>G	ENSP00000513234.1:p.Leu572Val
ENST00000697299.1:c.1714C>G	ENSP00000513235.1:p.Leu572Val
ENST00000697300.1:c.*1564C>G	ENSP00000513236.1:n.*1564C>G
ENST00000697301.1:c.*1481C>G	ENSP00000513237.1:n.*1481C>G
ENST00000697302.1:c.*1481C>G	ENSP00000513238.1:n.*1481C>G
ENST00000697303.1:c.*1564C>G	ENSP00000513239.1:n.*1564C>G
ENST00000697304.1:c.1648C>G	ENSP00000513240.1:p.Leu550Val
ENST00000697306.1:c.*2511C>G	ENSP00000513241.1:n.*2511C>G
ENST00000697307.1:c.1846-2884C>G	ENSP00000513242.1:n.1846-2884C>G
ENST00000697308.1:c.1891C>G	ENSP00000513243.1:p.Leu631Val
ENST00000697309.1:c.1960C>G	ENSP00000513244.1:p.Leu654Val
ENST00000697310.1:c.1960C>G	ENSP00000513245.1:p.Leu654Val
ENST00000697311.1:c.1960C>G	ENSP00000513246.1:p.Leu654Val
ENST00000697312.1:c.*1358C>G	ENSP00000513247.1:n.*1358C>G
ENST00000697313.1:n.2688-10638C>G
ENST00000697314.1:n.3636+6994C>G
ENST00000697315.1:c.1960C>G	ENSP00000513248.1:p.Leu654Val
ENST00000697316.1:n.2081C>G
ENST00000697317.1:n.2051C>G
ENST00000265433.8:c.1960C>G MANE Select	ENSP00000265433.4:p.Leu654Val
ENST00000265433.7:c.1960C>G	ENSP00000265433.3:p.Leu654Val
ENST00000396252.6:c.*1833C>G	ENSP00000379551.2:n.*1833C>G
ENST00000409330.5:c.1714C>G	ENSP00000386924.1:p.Leu572Val
ENST00000520325.1:n.376C>G
ENST00000613033.1:c.180+1574C>G	ENSP00000484487.1:n.180+1574C>G
NM_001024688.2:c.1714C>G	NP_001019859.1:p.Leu572Val
NM_002485.4:c.1960C>G , LRG_158t1:c.1960C>G	NP_002476.2:p.Leu654Val
XM_011517044.1:c.1936C>G	XP_011515346.1:p.Leu646Val
XM_011517045.1:c.1714C>G	XP_011515347.1:p.Leu572Val
XM_017013460.1:c.1081C>G	XP_016868949.1:p.Leu361Val
XM_017013462.2:c.1081C>G	XP_016868951.1:p.Leu361Val
XM_024447163.1:c.1714C>G	XP_024302931.1:p.Leu572Val
XM_024447164.1:c.1714C>G	XP_024302932.1:p.Leu572Val
XM_024447165.1:c.1081C>G	XP_024302933.1:p.Leu361Val
NM_002485.5:c.1960C>G MANE Select	NP_002476.2:p.Leu654Val
NM_001024688.3:c.1714C>G	NP_001019859.1:p.Leu572Val