Canonical Allele Identifier: CA95750330
Gene: N4BP2 HGNC NCBI

Linked Data

dbSNP Id: rs369443725
gnomAD v2: 4-40123371-C-T
gnomAD v3: 4-40121751-C-T
gnomAD v4: 4-40121751-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.40121751C>T , CM000666.2:g.40121751C>T GRCh38
NC_000004.11:g.40123371C>T , CM000666.1:g.40123371C>T GRCh37
NC_000004.10:g.39799766C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000706658.1:c.*3431C>T ENSP00000516486.1:n.*3431C>T
ENST00000261435.11:c.3640C>T MANE Select ENSP00000261435.6:p.His1214Tyr
ENST00000261435.10:c.3640C>T ENSP00000261435.6:p.His1214Tyr
ENST00000511480.5:c.*3431C>T ENSP00000422436.1:n.*3431C>T
ENST00000513269.1:c.2579C>T
NM_018177.4:c.3640C>T NP_060647.2:p.His1214Tyr
XM_006714022.2:c.3400C>T XP_006714085.1:p.His1134Tyr
XM_006714023.2:c.3400C>T XP_006714086.1:p.His1134Tyr
XM_011513715.1:c.4036C>T XP_011512017.1:p.His1346Tyr
XM_011513716.1:c.4036C>T XP_011512018.1:p.His1346Tyr
XM_011513717.1:c.4036C>T XP_011512019.1:p.His1346Tyr
XM_011513718.1:c.3640C>T XP_011512020.1:p.His1214Tyr
XM_011513719.1:c.3400C>T XP_011512021.1:p.His1134Tyr
XM_011513720.1:c.3400C>T XP_011512022.1:p.His1134Tyr
XM_011513721.1:c.3400C>T XP_011512023.1:p.His1134Tyr
NM_001318359.1:c.3400C>T NP_001305288.1:p.His1134Tyr
NM_018177.5:c.3640C>T NP_060647.2:p.His1214Tyr
XM_006714023.3:c.3400C>T XP_006714086.1:p.His1134Tyr
XM_011513716.2:c.4036C>T XP_011512018.1:p.His1346Tyr
XM_011513717.2:c.4036C>T XP_011512019.1:p.His1346Tyr
XM_011513718.2:c.3640C>T XP_011512020.1:p.His1214Tyr
XM_011513719.2:c.3400C>T XP_011512021.1:p.His1134Tyr
XM_017008397.1:c.4036C>T XP_016863886.1:p.His1346Tyr
XM_017008398.1:c.3640C>T XP_016863887.1:p.His1214Tyr
XM_017008399.1:c.3400C>T XP_016863888.1:p.His1134Tyr
XR_001741283.1:n.4217C>T
NM_018177.6:c.3640C>T MANE Select NP_060647.2:p.His1214Tyr
NM_001318359.2:c.3400C>T NP_001305288.1:p.His1134Tyr