Canonical Allele Identifier: CA374619589
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114403938C>G , CM000671.2:g.114403938C>G GRCh38
NC_000009.11:g.117166218C>G , CM000671.1:g.117166218C>G GRCh37
NC_000009.10:g.116206039C>G NCBI36
NG_016700.1:g.106519G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.720G>C ENSP00000514396.1:p.Glu240Asp
ENST00000362057.4:c.2376G>C MANE Select ENSP00000354623.3:p.Glu792Asp
ENST00000674036.8:c.1349G>C
ENST00000674048.1:n.2257G>C
ENST00000265134.10:c.1227G>C ENSP00000265134.6:p.Glu409Asp
ENST00000362057.3:c.2376G>C ENSP00000354623.3:p.Glu792Asp
ENST00000374059.7:c.1323G>C ENSP00000363172.3:p.Glu441Asp
NM_001083885.2:c.1227G>C NP_001077354.2:p.Glu409Asp
NM_001173425.1:c.2373G>C NP_001166896.1:p.Glu791Asp
NM_015404.3:c.2376G>C NP_056219.3:p.Glu792Asp
XM_005251897.3:c.1713G>C XP_005251954.2:p.Glu571Asp
XM_011518484.1:c.2409G>C XP_011516786.1:p.Glu803Asp
XM_011518485.1:c.2409G>C XP_011516787.1:p.Glu803Asp
XM_011518486.1:c.2406G>C XP_011516788.1:p.Glu802Asp
XM_011518487.1:c.2283G>C XP_011516789.1:p.Glu761Asp
XM_011518488.1:c.2166G>C XP_011516790.1:p.Glu722Asp
XM_011518495.1:c.1086G>C XP_011516797.1:p.Glu362Asp
XR_929747.1:n.3313G>C
XR_929748.1:n.3211G>C
NM_001346890.1:c.1323G>C NP_001333819.1:p.Glu441Asp
XM_011518486.2:c.2406G>C XP_011516788.1:p.Glu802Asp
XM_011518487.2:c.2283G>C XP_011516789.1:p.Glu761Asp
XM_011518488.2:c.2166G>C XP_011516790.1:p.Glu722Asp
XR_929747.2:n.2624G>C
XR_929748.2:n.2522G>C
NM_015404.4:c.2376G>C MANE Select NP_056219.3:p.Glu792Asp
NM_001173425.2:c.2373G>C NP_001166896.1:p.Glu791Asp
NM_001083885.3:c.1227G>C NP_001077354.2:p.Glu409Asp