Canonical Allele Identifier: CA374620323
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406502T>G , CM000671.2:g.114406502T>G GRCh38
NC_000009.11:g.117168782T>G , CM000671.1:g.117168782T>G GRCh37
NC_000009.10:g.116208603T>G NCBI36
NG_016700.1:g.103955A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.433A>C ENSP00000514396.1:p.Thr145Pro
ENST00000362057.4:c.2089A>C MANE Select ENSP00000354623.3:p.Thr697Pro
ENST00000674036.8:c.1062A>C
ENST00000674048.1:n.1970A>C
ENST00000265134.10:c.940A>C ENSP00000265134.6:p.Thr314Pro
ENST00000362057.3:c.2089A>C ENSP00000354623.3:p.Thr697Pro
ENST00000374059.7:c.1036A>C ENSP00000363172.3:p.Thr346Pro
NM_001083885.2:c.940A>C NP_001077354.2:p.Thr314Pro
NM_001173425.1:c.2089A>C NP_001166896.1:p.Thr697Pro
NM_015404.3:c.2089A>C NP_056219.3:p.Thr697Pro
XM_005251897.3:c.1426A>C XP_005251954.2:p.Thr476Pro
XM_011518484.1:c.2122A>C XP_011516786.1:p.Thr708Pro
XM_011518485.1:c.2122A>C XP_011516787.1:p.Thr708Pro
XM_011518486.1:c.2122A>C XP_011516788.1:p.Thr708Pro
XM_011518487.1:c.1996A>C XP_011516789.1:p.Thr666Pro
XM_011518488.1:c.1879A>C XP_011516790.1:p.Thr627Pro
XM_011518495.1:c.799A>C XP_011516797.1:p.Thr267Pro
XR_929747.1:n.3026A>C
XR_929748.1:n.2924A>C
NM_001346890.1:c.1036A>C NP_001333819.1:p.Thr346Pro
XM_011518486.2:c.2122A>C XP_011516788.1:p.Thr708Pro
XM_011518487.2:c.1996A>C XP_011516789.1:p.Thr666Pro
XM_011518488.2:c.1879A>C XP_011516790.1:p.Thr627Pro
XR_929747.2:n.2337A>C
XR_929748.2:n.2235A>C
NM_015404.4:c.2089A>C MANE Select NP_056219.3:p.Thr697Pro
NM_001173425.2:c.2089A>C NP_001166896.1:p.Thr697Pro
NM_001083885.3:c.940A>C NP_001077354.2:p.Thr314Pro