Canonical Allele Identifier: CA371674768

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949269G>C (hg19) ; chr8:g.89937041G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937041G>C , CM000670.2:g.89937041G>C	GRCh38
NC_000008.10:g.90949269G>C , CM000670.1:g.90949269G>C	GRCh37
NC_000008.9:g.91018445G>C	NCBI36
NG_008860.1:g.52631C>G , LRG_158:g.52631C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3639C>G
ENST00000494804.2:n.3521C>G
ENST00000517337.2:c.1973C>G	ENSP00000429971.2:p.Ala658Gly
ENST00000523444.2:c.1973C>G	ENSP00000428252.2:p.Ala658Gly
ENST00000697292.1:c.2219C>G	ENSP00000513229.1:p.Ala740Gly
ENST00000697293.1:c.2270C>G	ENSP00000513230.1:p.Ala757Gly
ENST00000697294.1:c.*1830C>G	ENSP00000513231.1:n.*1830C>G
ENST00000697295.1:c.*1528C>G	ENSP00000513232.1:n.*1528C>G
ENST00000697296.1:c.*1887C>G	ENSP00000513233.1:n.*1887C>G
ENST00000697297.1:n.4004C>G
ENST00000697298.1:c.1973C>G	ENSP00000513234.1:p.Ala658Gly
ENST00000697299.1:c.1973C>G	ENSP00000513235.1:p.Ala658Gly
ENST00000697300.1:c.*1823C>G	ENSP00000513236.1:n.*1823C>G
ENST00000697301.1:c.*1740C>G	ENSP00000513237.1:n.*1740C>G
ENST00000697302.1:c.*1740C>G	ENSP00000513238.1:n.*1740C>G
ENST00000697303.1:c.*1823C>G	ENSP00000513239.1:n.*1823C>G
ENST00000697304.1:c.1907C>G	ENSP00000513240.1:p.Ala636Gly
ENST00000697305.1:n.2486C>G
ENST00000697306.1:c.*2770C>G	ENSP00000513241.1:n.*2770C>G
ENST00000697307.1:c.1994C>G	ENSP00000513242.1:p.Ala665Gly
ENST00000697308.1:c.2150C>G	ENSP00000513243.1:p.Ala717Gly
ENST00000697309.1:c.2185-1429C>G	ENSP00000513244.1:n.2185-1429C>G
ENST00000697310.1:c.2219C>G	ENSP00000513245.1:p.Ala740Gly
ENST00000697311.1:c.*484C>G	ENSP00000513246.1:n.*484C>G
ENST00000697312.1:c.*1672C>G	ENSP00000513247.1:n.*1672C>G
ENST00000697313.1:n.2688-1429C>G
ENST00000697314.1:n.3637-1429C>G
ENST00000697315.1:c.*123C>G	ENSP00000513248.1:n.*123C>G
ENST00000697316.1:n.2340C>G
ENST00000265433.8:c.2219C>G MANE Select	ENSP00000265433.4:p.Ala740Gly
ENST00000265433.7:c.2219C>G	ENSP00000265433.3:p.Ala740Gly
ENST00000396252.6:c.*2092C>G	ENSP00000379551.2:n.*2092C>G
ENST00000409330.5:c.1973C>G	ENSP00000386924.1:p.Ala658Gly
ENST00000474821.1:n.307C>G
ENST00000613033.1:c.329C>G	ENSP00000484487.1:p.Ala110Gly
NM_001024688.2:c.1973C>G	NP_001019859.1:p.Ala658Gly
NM_002485.4:c.2219C>G , LRG_158t1:c.2219C>G	NP_002476.2:p.Ala740Gly
XM_011517044.1:c.2195C>G	XP_011515346.1:p.Ala732Gly
XM_011517045.1:c.1973C>G	XP_011515347.1:p.Ala658Gly
XM_017013460.1:c.1340C>G	XP_016868949.1:p.Ala447Gly
XM_017013462.2:c.1340C>G	XP_016868951.1:p.Ala447Gly
XM_024447163.1:c.1973C>G	XP_024302931.1:p.Ala658Gly
XM_024447164.1:c.1973C>G	XP_024302932.1:p.Ala658Gly
XM_024447165.1:c.1340C>G	XP_024302933.1:p.Ala447Gly
NM_002485.5:c.2219C>G MANE Select	NP_002476.2:p.Ala740Gly
NM_001024688.3:c.1973C>G	NP_001019859.1:p.Ala658Gly