Canonical Allele Identifier: CA374620319
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406501G>C , CM000671.2:g.114406501G>C GRCh38
NC_000009.11:g.117168781G>C , CM000671.1:g.117168781G>C GRCh37
NC_000009.10:g.116208602G>C NCBI36
NG_016700.1:g.103956C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.434C>G ENSP00000514396.1:p.Thr145Arg
ENST00000362057.4:c.2090C>G MANE Select ENSP00000354623.3:p.Thr697Arg
ENST00000674036.8:c.1063C>G
ENST00000674048.1:n.1971C>G
ENST00000265134.10:c.941C>G ENSP00000265134.6:p.Thr314Arg
ENST00000362057.3:c.2090C>G ENSP00000354623.3:p.Thr697Arg
ENST00000374059.7:c.1037C>G ENSP00000363172.3:p.Thr346Arg
NM_001083885.2:c.941C>G NP_001077354.2:p.Thr314Arg
NM_001173425.1:c.2090C>G NP_001166896.1:p.Thr697Arg
NM_015404.3:c.2090C>G NP_056219.3:p.Thr697Arg
XM_005251897.3:c.1427C>G XP_005251954.2:p.Thr476Arg
XM_011518484.1:c.2123C>G XP_011516786.1:p.Thr708Arg
XM_011518485.1:c.2123C>G XP_011516787.1:p.Thr708Arg
XM_011518486.1:c.2123C>G XP_011516788.1:p.Thr708Arg
XM_011518487.1:c.1997C>G XP_011516789.1:p.Thr666Arg
XM_011518488.1:c.1880C>G XP_011516790.1:p.Thr627Arg
XM_011518495.1:c.800C>G XP_011516797.1:p.Thr267Arg
XR_929747.1:n.3027C>G
XR_929748.1:n.2925C>G
NM_001346890.1:c.1037C>G NP_001333819.1:p.Thr346Arg
XM_011518486.2:c.2123C>G XP_011516788.1:p.Thr708Arg
XM_011518487.2:c.1997C>G XP_011516789.1:p.Thr666Arg
XM_011518488.2:c.1880C>G XP_011516790.1:p.Thr627Arg
XR_929747.2:n.2338C>G
XR_929748.2:n.2236C>G
NM_015404.4:c.2090C>G MANE Select NP_056219.3:p.Thr697Arg
NM_001173425.2:c.2090C>G NP_001166896.1:p.Thr697Arg
NM_001083885.3:c.941C>G NP_001077354.2:p.Thr314Arg