Canonical Allele Identifier: CA1908096
Gene: NEB HGNC NCBI

Linked Data

ClinVar Variation Id: 285089
dbSNP Id: rs376199241

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.151568077C>T , CM000664.2:g.151568077C>T GRCh38
NC_000002.11:g.152424591C>T , CM000664.1:g.152424591C>T GRCh37
NC_000002.10:g.152132837C>T NCBI36
NG_009382.2:g.171411G>A , LRG_202:g.171411G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000690043.1:c.689G>A
ENST00000397345.8:c.17838G>A MANE Select ENSP00000380505.3:p.Gln5946=
ENST00000427231.7:c.17838G>A MANE Plus Clinical ENSP00000416578.2:p.Gln5946=
ENST00000172853.14:c.12735G>A ENSP00000172853.10:p.Gln4245=
ENST00000397345.7:c.17838G>A ENSP00000380505.3:p.Gln5946=
ENST00000409198.5:c.12735G>A ENSP00000386259.1:p.Gln4245=
ENST00000413693.5:c.2028G>A ENSP00000410961.1:p.Gln676=
ENST00000427231.6:c.17838G>A ENSP00000416578.2:p.Gln5946=
ENST00000603639.5:c.17838G>A ENSP00000473894.1:p.Gln5946=
ENST00000604864.5:c.17838G>A ENSP00000474498.1:p.Gln5946=
ENST00000618972.4:c.17838G>A ENSP00000484342.1:p.Gln5946=
NM_001164507.1:c.17838G>A NP_001157979.1:p.Gln5946=
NM_001164508.1:c.17838G>A NP_001157980.1:p.Gln5946=
NM_001271208.1:c.17838G>A , LRG_202t1:c.17838G>A NP_001258137.1:p.Gln5946=
NM_004543.4:c.12735G>A NP_004534.2:p.Gln4245=
XM_005246590.1:c.17838G>A XP_005246647.1:p.Gln5946=
XM_005246591.1:c.17838G>A XP_005246648.1:p.Gln5946=
XM_005246592.1:c.17838G>A XP_005246649.1:p.Gln5946=
XM_005246593.1:c.17838G>A XP_005246650.1:p.Gln5946=
XM_005246594.1:c.17838G>A XP_005246651.1:p.Gln5946=
XM_005246595.1:c.17838G>A XP_005246652.1:p.Gln5946=
XM_005246596.1:c.17838G>A XP_005246653.1:p.Gln5946=
XM_005246597.1:c.17838G>A XP_005246654.1:p.Gln5946=
XM_005246598.1:c.17838G>A XP_005246655.1:p.Gln5946=
XM_005246599.1:c.17838G>A XP_005246656.1:p.Gln5946=
XM_005246600.1:c.17838G>A XP_005246657.1:p.Gln5946=
XM_005246601.1:c.17838G>A XP_005246658.1:p.Gln5946=
XM_005246602.1:c.17838G>A XP_005246659.1:p.Gln5946=
XM_005246603.1:c.17838G>A XP_005246660.1:p.Gln5946=
XM_005246604.1:c.17838G>A XP_005246661.1:p.Gln5946=
XM_005246606.1:c.17838G>A XP_005246663.1:p.Gln5946=
XM_005246608.1:c.17838G>A XP_005246665.1:p.Gln5946=
XM_005246610.1:c.17838G>A XP_005246667.1:p.Gln5946=
XM_005246611.1:c.17838G>A XP_005246668.1:p.Gln5946=
XM_005246612.1:c.17109G>A XP_005246669.1:p.Gln5703=
XM_005246613.1:c.17109G>A XP_005246670.1:p.Gln5703=
XM_005246615.1:c.17838G>A XP_005246672.1:p.Gln5946=
XM_005246616.1:c.17838G>A XP_005246673.1:p.Gln5946=
XM_005246617.1:c.14922G>A XP_005246674.1:p.Gln4974=
XM_006712541.1:c.17838G>A XP_006712604.1:p.Gln5946=
XM_006712542.1:c.17838G>A XP_006712605.1:p.Gln5946=
XM_011511224.1:c.17838G>A XP_011509526.1:p.Gln5946=
XM_011511225.1:c.17838G>A XP_011509527.1:p.Gln5946=
XM_011511226.1:c.15651G>A XP_011509528.1:p.Gln5217=
XM_011511227.1:c.13464G>A XP_011509529.1:p.Gln4488=
XM_005246590.2:c.17838G>A XP_005246647.1:p.Gln5946=
XM_005246591.2:c.17838G>A XP_005246648.1:p.Gln5946=
XM_005246592.2:c.17838G>A XP_005246649.1:p.Gln5946=
XM_005246593.2:c.17838G>A XP_005246650.1:p.Gln5946=
XM_005246594.2:c.17838G>A XP_005246651.1:p.Gln5946=
XM_005246596.2:c.17838G>A XP_005246653.1:p.Gln5946=
XM_005246597.2:c.17838G>A XP_005246654.1:p.Gln5946=
XM_005246598.2:c.17838G>A XP_005246655.1:p.Gln5946=
XM_005246599.2:c.17838G>A XP_005246656.1:p.Gln5946=
XM_005246601.2:c.17838G>A XP_005246658.1:p.Gln5946=
XM_005246602.2:c.17838G>A XP_005246659.1:p.Gln5946=
XM_005246603.2:c.17838G>A XP_005246660.1:p.Gln5946=
XM_005246604.2:c.17838G>A XP_005246661.1:p.Gln5946=
XM_005246606.2:c.17838G>A XP_005246663.1:p.Gln5946=
XM_005246608.2:c.17838G>A XP_005246665.1:p.Gln5946=
XM_005246610.2:c.17838G>A XP_005246667.1:p.Gln5946=
XM_005246611.2:c.17838G>A XP_005246668.1:p.Gln5946=
XM_005246612.2:c.17109G>A XP_005246669.1:p.Gln5703=
XM_005246613.2:c.17109G>A XP_005246670.1:p.Gln5703=
XM_005246615.2:c.17838G>A XP_005246672.1:p.Gln5946=
XM_005246617.2:c.14922G>A XP_005246674.1:p.Gln4974=
XM_006712541.2:c.17838G>A XP_006712604.1:p.Gln5946=
XM_006712542.2:c.17838G>A XP_006712605.1:p.Gln5946=
XM_011511225.2:c.17838G>A XP_011509527.1:p.Gln5946=
XM_011511226.2:c.15651G>A XP_011509528.1:p.Gln5217=
XM_011511227.2:c.13464G>A XP_011509529.1:p.Gln4488=
XM_017004177.1:c.17838G>A XP_016859666.1:p.Gln5946=
XM_017004178.1:c.17838G>A XP_016859667.1:p.Gln5946=
XM_017004179.1:c.17838G>A XP_016859668.1:p.Gln5946=
XM_017004180.1:c.17838G>A XP_016859669.1:p.Gln5946=
XM_017004181.1:c.17838G>A XP_016859670.1:p.Gln5946=
XM_017004182.1:c.17838G>A XP_016859671.1:p.Gln5946=
XM_017004183.1:c.17838G>A XP_016859672.1:p.Gln5946=
XM_017004184.1:c.17838G>A XP_016859673.1:p.Gln5946=
XM_017004185.1:c.17838G>A XP_016859674.1:p.Gln5946=
NM_001271208.2:c.17838G>A NP_001258137.2:p.Gln5946=
NM_004543.5:c.12735G>A NP_004534.3:p.Gln4245=
NM_001164507.2:c.17838G>A MANE Plus Clinical NP_001157979.2:p.Gln5946=
NM_001164508.2:c.17838G>A MANE Select NP_001157980.2:p.Gln5946=