Canonical Allele Identifier: CA181268696

Gene: NBN

Linked Data

• ClinVar Variation Id: 1788147
• ClinVar RCV Id: RCV002428274 ; RCV003101153
• dbSNP Id: rs1055955881
• MyVariant Identifiers: chr8:g.90949256A>G (hg19) ; chr8:g.89937028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.89937028A>G , CM000670.2:g.89937028A>G	GRCh38
NC_000008.10:g.90949256A>G , CM000670.1:g.90949256A>G	GRCh37
NC_000008.9:g.91018432A>G	NCBI36
NG_008860.1:g.52644T>C , LRG_158:g.52644T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000474821.2:n.3652T>C
ENST00000494804.2:n.3534T>C
ENST00000517337.2:c.1986T>C	ENSP00000429971.2:p.Phe662=
ENST00000523444.2:c.1986T>C	ENSP00000428252.2:p.Phe662=
ENST00000697292.1:c.2232T>C	ENSP00000513229.1:p.Phe744=
ENST00000697293.1:c.2283T>C	ENSP00000513230.1:p.Phe761=
ENST00000697294.1:c.*1843T>C	ENSP00000513231.1:n.*1843T>C
ENST00000697295.1:c.*1541T>C	ENSP00000513232.1:n.*1541T>C
ENST00000697296.1:c.*1900T>C	ENSP00000513233.1:n.*1900T>C
ENST00000697297.1:n.4017T>C
ENST00000697298.1:c.1986T>C	ENSP00000513234.1:p.Phe662=
ENST00000697299.1:c.1986T>C	ENSP00000513235.1:p.Phe662=
ENST00000697300.1:c.*1836T>C	ENSP00000513236.1:n.*1836T>C
ENST00000697301.1:c.*1753T>C	ENSP00000513237.1:n.*1753T>C
ENST00000697302.1:c.*1753T>C	ENSP00000513238.1:n.*1753T>C
ENST00000697303.1:c.*1836T>C	ENSP00000513239.1:n.*1836T>C
ENST00000697304.1:c.1920T>C	ENSP00000513240.1:p.Phe640=
ENST00000697305.1:n.2499T>C
ENST00000697306.1:c.*2783T>C	ENSP00000513241.1:n.*2783T>C
ENST00000697307.1:c.2007T>C	ENSP00000513242.1:p.Phe669=
ENST00000697308.1:c.2163T>C	ENSP00000513243.1:p.Phe721=
ENST00000697309.1:c.2185-1416T>C	ENSP00000513244.1:n.2185-1416T>C
ENST00000697310.1:c.2232T>C	ENSP00000513245.1:p.Phe744=
ENST00000697311.1:c.*497T>C	ENSP00000513246.1:n.*497T>C
ENST00000697312.1:c.*1685T>C	ENSP00000513247.1:n.*1685T>C
ENST00000697313.1:n.2688-1416T>C
ENST00000697314.1:n.3637-1416T>C
ENST00000697315.1:c.*136T>C	ENSP00000513248.1:n.*136T>C
ENST00000697316.1:n.2353T>C
ENST00000265433.8:c.2232T>C MANE Select	ENSP00000265433.4:p.Phe744=
ENST00000265433.7:c.2232T>C	ENSP00000265433.3:p.Phe744=
ENST00000396252.6:c.*2105T>C	ENSP00000379551.2:n.*2105T>C
ENST00000409330.5:c.1986T>C	ENSP00000386924.1:p.Phe662=
ENST00000474821.1:n.320T>C
ENST00000613033.1:c.342T>C	ENSP00000484487.1:p.Phe114=
NM_001024688.2:c.1986T>C	NP_001019859.1:p.Phe662=
NM_002485.4:c.2232T>C , LRG_158t1:c.2232T>C	NP_002476.2:p.Phe744=
XM_011517044.1:c.2208T>C	XP_011515346.1:p.Phe736=
XM_011517045.1:c.1986T>C	XP_011515347.1:p.Phe662=
XM_017013460.1:c.1353T>C	XP_016868949.1:p.Phe451=
XM_017013462.2:c.1353T>C	XP_016868951.1:p.Phe451=
XM_024447163.1:c.1986T>C	XP_024302931.1:p.Phe662=
XM_024447164.1:c.1986T>C	XP_024302932.1:p.Phe662=
XM_024447165.1:c.1353T>C	XP_024302933.1:p.Phe451=
NM_002485.5:c.2232T>C MANE Select	NP_002476.2:p.Phe744=
NM_001024688.3:c.1986T>C	NP_001019859.1:p.Phe662=