Canonical Allele Identifier: CA371674766

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949267C>G (hg19) ; chr8:g.89937039C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937039C>G , CM000670.2:g.89937039C>G	GRCh38
NC_000008.10:g.90949267C>G , CM000670.1:g.90949267C>G	GRCh37
NC_000008.9:g.91018443C>G	NCBI36
NG_008860.1:g.52633G>C , LRG_158:g.52633G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3641G>C
ENST00000494804.2:n.3523G>C
ENST00000517337.2:c.1975G>C	ENSP00000429971.2:p.Asp659His
ENST00000523444.2:c.1975G>C	ENSP00000428252.2:p.Asp659His
ENST00000697292.1:c.2221G>C	ENSP00000513229.1:p.Asp741His
ENST00000697293.1:c.2272G>C	ENSP00000513230.1:p.Asp758His
ENST00000697294.1:c.*1832G>C	ENSP00000513231.1:n.*1832G>C
ENST00000697295.1:c.*1530G>C	ENSP00000513232.1:n.*1530G>C
ENST00000697296.1:c.*1889G>C	ENSP00000513233.1:n.*1889G>C
ENST00000697297.1:n.4006G>C
ENST00000697298.1:c.1975G>C	ENSP00000513234.1:p.Asp659His
ENST00000697299.1:c.1975G>C	ENSP00000513235.1:p.Asp659His
ENST00000697300.1:c.*1825G>C	ENSP00000513236.1:n.*1825G>C
ENST00000697301.1:c.*1742G>C	ENSP00000513237.1:n.*1742G>C
ENST00000697302.1:c.*1742G>C	ENSP00000513238.1:n.*1742G>C
ENST00000697303.1:c.*1825G>C	ENSP00000513239.1:n.*1825G>C
ENST00000697304.1:c.1909G>C	ENSP00000513240.1:p.Asp637His
ENST00000697305.1:n.2488G>C
ENST00000697306.1:c.*2772G>C	ENSP00000513241.1:n.*2772G>C
ENST00000697307.1:c.1996G>C	ENSP00000513242.1:p.Asp666His
ENST00000697308.1:c.2152G>C	ENSP00000513243.1:p.Asp718His
ENST00000697309.1:c.2185-1427G>C	ENSP00000513244.1:n.2185-1427G>C
ENST00000697310.1:c.2221G>C	ENSP00000513245.1:p.Asp741His
ENST00000697311.1:c.*486G>C	ENSP00000513246.1:n.*486G>C
ENST00000697312.1:c.*1674G>C	ENSP00000513247.1:n.*1674G>C
ENST00000697313.1:n.2688-1427G>C
ENST00000697314.1:n.3637-1427G>C
ENST00000697315.1:c.*125G>C	ENSP00000513248.1:n.*125G>C
ENST00000697316.1:n.2342G>C
ENST00000265433.8:c.2221G>C MANE Select	ENSP00000265433.4:p.Asp741His
ENST00000265433.7:c.2221G>C	ENSP00000265433.3:p.Asp741His
ENST00000396252.6:c.*2094G>C	ENSP00000379551.2:n.*2094G>C
ENST00000409330.5:c.1975G>C	ENSP00000386924.1:p.Asp659His
ENST00000474821.1:n.309G>C
ENST00000613033.1:c.331G>C	ENSP00000484487.1:p.Asp111His
NM_001024688.2:c.1975G>C	NP_001019859.1:p.Asp659His
NM_002485.4:c.2221G>C , LRG_158t1:c.2221G>C	NP_002476.2:p.Asp741His
XM_011517044.1:c.2197G>C	XP_011515346.1:p.Asp733His
XM_011517045.1:c.1975G>C	XP_011515347.1:p.Asp659His
XM_017013460.1:c.1342G>C	XP_016868949.1:p.Asp448His
XM_017013462.2:c.1342G>C	XP_016868951.1:p.Asp448His
XM_024447163.1:c.1975G>C	XP_024302931.1:p.Asp659His
XM_024447164.1:c.1975G>C	XP_024302932.1:p.Asp659His
XM_024447165.1:c.1342G>C	XP_024302933.1:p.Asp448His
NM_002485.5:c.2221G>C MANE Select	NP_002476.2:p.Asp741His
NM_001024688.3:c.1975G>C	NP_001019859.1:p.Asp659His