Canonical Allele Identifier: CA374619032
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114402905A>G , CM000671.2:g.114402905A>G GRCh38
NC_000009.11:g.117165185A>G , CM000671.1:g.117165185A>G GRCh37
NC_000009.10:g.116205006A>G NCBI36
NG_016700.1:g.107552T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.917T>C ENSP00000514396.1:p.Leu306Pro
ENST00000362057.4:c.2573T>C MANE Select ENSP00000354623.3:p.Leu858Pro
ENST00000674036.8:c.1546T>C
ENST00000674048.1:n.2454T>C
ENST00000265134.10:c.1424T>C ENSP00000265134.6:p.Leu475Pro
ENST00000362057.3:c.2573T>C ENSP00000354623.3:p.Leu858Pro
ENST00000374059.7:c.1520T>C ENSP00000363172.3:p.Leu507Pro
NM_001083885.2:c.1424T>C NP_001077354.2:p.Leu475Pro
NM_001173425.1:c.2570T>C NP_001166896.1:p.Leu857Pro
NM_015404.3:c.2573T>C NP_056219.3:p.Leu858Pro
XM_005251897.3:c.1910T>C XP_005251954.2:p.Leu637Pro
XM_011518484.1:c.2606T>C XP_011516786.1:p.Leu869Pro
XM_011518485.1:c.2606T>C XP_011516787.1:p.Leu869Pro
XM_011518486.1:c.2603T>C XP_011516788.1:p.Leu868Pro
XM_011518487.1:c.2480T>C XP_011516789.1:p.Leu827Pro
XM_011518488.1:c.2363T>C XP_011516790.1:p.Leu788Pro
XM_011518495.1:c.1283T>C XP_011516797.1:p.Leu428Pro
XR_929747.1:n.3510T>C
XR_929748.1:n.3408T>C
NM_001346890.1:c.1520T>C NP_001333819.1:p.Leu507Pro
XM_011518486.2:c.2603T>C XP_011516788.1:p.Leu868Pro
XM_011518487.2:c.2480T>C XP_011516789.1:p.Leu827Pro
XM_011518488.2:c.2363T>C XP_011516790.1:p.Leu788Pro
XR_929747.2:n.2821T>C
XR_929748.2:n.2719T>C
NM_015404.4:c.2573T>C MANE Select NP_056219.3:p.Leu858Pro
NM_001173425.2:c.2570T>C NP_001166896.1:p.Leu857Pro
NM_001083885.3:c.1424T>C NP_001077354.2:p.Leu475Pro