Canonical Allele Identifier: CA371674835

Gene: NBN

Linked Data

• MyVariant Identifiers: chr8:g.90949299T>G (hg19) ; chr8:g.89937071T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937071T>G , CM000670.2:g.89937071T>G	GRCh38
NC_000008.10:g.90949299T>G , CM000670.1:g.90949299T>G	GRCh37
NC_000008.9:g.91018475T>G	NCBI36
NG_008860.1:g.52601A>C , LRG_158:g.52601A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3609A>C
ENST00000494804.2:n.3491A>C
ENST00000517337.2:c.1943A>C	ENSP00000429971.2:p.Gln648Pro
ENST00000523444.2:c.1943A>C	ENSP00000428252.2:p.Gln648Pro
ENST00000697292.1:c.2189A>C	ENSP00000513229.1:p.Gln730Pro
ENST00000697293.1:c.2240A>C	ENSP00000513230.1:p.Gln747Pro
ENST00000697294.1:c.*1800A>C	ENSP00000513231.1:n.*1800A>C
ENST00000697295.1:c.*1498A>C	ENSP00000513232.1:n.*1498A>C
ENST00000697296.1:c.*1857A>C	ENSP00000513233.1:n.*1857A>C
ENST00000697297.1:n.3974A>C
ENST00000697298.1:c.1943A>C	ENSP00000513234.1:p.Gln648Pro
ENST00000697299.1:c.1943A>C	ENSP00000513235.1:p.Gln648Pro
ENST00000697300.1:c.*1793A>C	ENSP00000513236.1:n.*1793A>C
ENST00000697301.1:c.*1710A>C	ENSP00000513237.1:n.*1710A>C
ENST00000697302.1:c.*1710A>C	ENSP00000513238.1:n.*1710A>C
ENST00000697303.1:c.*1793A>C	ENSP00000513239.1:n.*1793A>C
ENST00000697304.1:c.1877A>C	ENSP00000513240.1:p.Gln626Pro
ENST00000697305.1:n.2456A>C
ENST00000697306.1:c.*2740A>C	ENSP00000513241.1:n.*2740A>C
ENST00000697307.1:c.1964A>C	ENSP00000513242.1:p.Gln655Pro
ENST00000697308.1:c.2120A>C	ENSP00000513243.1:p.Gln707Pro
ENST00000697309.1:c.2185-1459A>C	ENSP00000513244.1:n.2185-1459A>C
ENST00000697310.1:c.2189A>C	ENSP00000513245.1:p.Gln730Pro
ENST00000697311.1:c.*454A>C	ENSP00000513246.1:n.*454A>C
ENST00000697312.1:c.*1642A>C	ENSP00000513247.1:n.*1642A>C
ENST00000697313.1:n.2688-1459A>C
ENST00000697314.1:n.3637-1459A>C
ENST00000697315.1:c.*93A>C	ENSP00000513248.1:n.*93A>C
ENST00000697316.1:n.2310A>C
ENST00000265433.8:c.2189A>C MANE Select	ENSP00000265433.4:p.Gln730Pro
ENST00000265433.7:c.2189A>C	ENSP00000265433.3:p.Gln730Pro
ENST00000396252.6:c.*2062A>C	ENSP00000379551.2:n.*2062A>C
ENST00000409330.5:c.1943A>C	ENSP00000386924.1:p.Gln648Pro
ENST00000474821.1:n.277A>C
ENST00000613033.1:c.299A>C	ENSP00000484487.1:p.Gln100Pro
NM_001024688.2:c.1943A>C	NP_001019859.1:p.Gln648Pro
NM_002485.4:c.2189A>C , LRG_158t1:c.2189A>C	NP_002476.2:p.Gln730Pro
XM_011517044.1:c.2165A>C	XP_011515346.1:p.Gln722Pro
XM_011517045.1:c.1943A>C	XP_011515347.1:p.Gln648Pro
XM_017013460.1:c.1310A>C	XP_016868949.1:p.Gln437Pro
XM_017013462.2:c.1310A>C	XP_016868951.1:p.Gln437Pro
XM_024447163.1:c.1943A>C	XP_024302931.1:p.Gln648Pro
XM_024447164.1:c.1943A>C	XP_024302932.1:p.Gln648Pro
XM_024447165.1:c.1310A>C	XP_024302933.1:p.Gln437Pro
NM_002485.5:c.2189A>C MANE Select	NP_002476.2:p.Gln730Pro
NM_001024688.3:c.1943A>C	NP_001019859.1:p.Gln648Pro