Canonical Allele Identifier: CA371674842

Gene: NBN

Linked Data

• COSMIC: COSM6114140
• MyVariant Identifiers: chr8:g.90949303C>G (hg19) ; chr8:g.89937075C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937075C>G , CM000670.2:g.89937075C>G	GRCh38
NC_000008.10:g.90949303C>G , CM000670.1:g.90949303C>G	GRCh37
NC_000008.9:g.91018479C>G	NCBI36
NG_008860.1:g.52597G>C , LRG_158:g.52597G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3605G>C
ENST00000494804.2:n.3487G>C
ENST00000517337.2:c.1939G>C	ENSP00000429971.2:p.Val647Leu
ENST00000523444.2:c.1939G>C	ENSP00000428252.2:p.Val647Leu
ENST00000697292.1:c.2185G>C	ENSP00000513229.1:p.Val729Leu
ENST00000697293.1:c.2236G>C	ENSP00000513230.1:p.Val746Leu
ENST00000697294.1:c.*1796G>C	ENSP00000513231.1:n.*1796G>C
ENST00000697295.1:c.*1494G>C	ENSP00000513232.1:n.*1494G>C
ENST00000697296.1:c.*1853G>C	ENSP00000513233.1:n.*1853G>C
ENST00000697297.1:n.3970G>C
ENST00000697298.1:c.1939G>C	ENSP00000513234.1:p.Val647Leu
ENST00000697299.1:c.1939G>C	ENSP00000513235.1:p.Val647Leu
ENST00000697300.1:c.*1789G>C	ENSP00000513236.1:n.*1789G>C
ENST00000697301.1:c.*1706G>C	ENSP00000513237.1:n.*1706G>C
ENST00000697302.1:c.*1706G>C	ENSP00000513238.1:n.*1706G>C
ENST00000697303.1:c.*1789G>C	ENSP00000513239.1:n.*1789G>C
ENST00000697304.1:c.1873G>C	ENSP00000513240.1:p.Val625Leu
ENST00000697305.1:n.2452G>C
ENST00000697306.1:c.*2736G>C	ENSP00000513241.1:n.*2736G>C
ENST00000697307.1:c.1960G>C	ENSP00000513242.1:p.Val654Leu
ENST00000697308.1:c.2116G>C	ENSP00000513243.1:p.Val706Leu
ENST00000697309.1:c.2185-1463G>C	ENSP00000513244.1:n.2185-1463G>C
ENST00000697310.1:c.2185G>C	ENSP00000513245.1:p.Val729Leu
ENST00000697311.1:c.*450G>C	ENSP00000513246.1:n.*450G>C
ENST00000697312.1:c.*1638G>C	ENSP00000513247.1:n.*1638G>C
ENST00000697313.1:n.2688-1463G>C
ENST00000697314.1:n.3637-1463G>C
ENST00000697315.1:c.*89G>C	ENSP00000513248.1:n.*89G>C
ENST00000697316.1:n.2306G>C
ENST00000265433.8:c.2185G>C MANE Select	ENSP00000265433.4:p.Val729Leu
ENST00000265433.7:c.2185G>C	ENSP00000265433.3:p.Val729Leu
ENST00000396252.6:c.*2058G>C	ENSP00000379551.2:n.*2058G>C
ENST00000409330.5:c.1939G>C	ENSP00000386924.1:p.Val647Leu
ENST00000474821.1:n.273G>C
ENST00000613033.1:c.295G>C	ENSP00000484487.1:p.Val99Leu
NM_001024688.2:c.1939G>C	NP_001019859.1:p.Val647Leu
NM_002485.4:c.2185G>C , LRG_158t1:c.2185G>C	NP_002476.2:p.Val729Leu
XM_011517044.1:c.2161G>C	XP_011515346.1:p.Val721Leu
XM_011517045.1:c.1939G>C	XP_011515347.1:p.Val647Leu
XM_017013460.1:c.1306G>C	XP_016868949.1:p.Val436Leu
XM_017013462.2:c.1306G>C	XP_016868951.1:p.Val436Leu
XM_024447163.1:c.1939G>C	XP_024302931.1:p.Val647Leu
XM_024447164.1:c.1939G>C	XP_024302932.1:p.Val647Leu
XM_024447165.1:c.1306G>C	XP_024302933.1:p.Val436Leu
NM_002485.5:c.2185G>C MANE Select	NP_002476.2:p.Val729Leu
NM_001024688.3:c.1939G>C	NP_001019859.1:p.Val647Leu