Canonical Allele Identifier: CA374618998
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114402888T>G , CM000671.2:g.114402888T>G GRCh38
NC_000009.11:g.117165168T>G , CM000671.1:g.117165168T>G GRCh37
NC_000009.10:g.116204989T>G NCBI36
NG_016700.1:g.107569A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.934A>C ENSP00000514396.1:p.Ile312Leu
ENST00000362057.4:c.2590A>C MANE Select ENSP00000354623.3:p.Ile864Leu
ENST00000674036.8:c.1563A>C
ENST00000674048.1:n.2471A>C
ENST00000265134.10:c.1441A>C ENSP00000265134.6:p.Ile481Leu
ENST00000362057.3:c.2590A>C ENSP00000354623.3:p.Ile864Leu
ENST00000374059.7:c.1537A>C ENSP00000363172.3:p.Ile513Leu
NM_001083885.2:c.1441A>C NP_001077354.2:p.Ile481Leu
NM_001173425.1:c.2587A>C NP_001166896.1:p.Ile863Leu
NM_015404.3:c.2590A>C NP_056219.3:p.Ile864Leu
XM_005251897.3:c.1927A>C XP_005251954.2:p.Ile643Leu
XM_011518484.1:c.2623A>C XP_011516786.1:p.Ile875Leu
XM_011518485.1:c.2623A>C XP_011516787.1:p.Ile875Leu
XM_011518486.1:c.2620A>C XP_011516788.1:p.Ile874Leu
XM_011518487.1:c.2497A>C XP_011516789.1:p.Ile833Leu
XM_011518488.1:c.2380A>C XP_011516790.1:p.Ile794Leu
XM_011518495.1:c.1300A>C XP_011516797.1:p.Ile434Leu
NM_001346890.1:c.1537A>C NP_001333819.1:p.Ile513Leu
XM_011518486.2:c.2620A>C XP_011516788.1:p.Ile874Leu
XM_011518487.2:c.2497A>C XP_011516789.1:p.Ile833Leu
XM_011518488.2:c.2380A>C XP_011516790.1:p.Ile794Leu
NM_015404.4:c.2590A>C MANE Select NP_056219.3:p.Ile864Leu
NM_001173425.2:c.2587A>C NP_001166896.1:p.Ile863Leu
NM_001083885.3:c.1441A>C NP_001077354.2:p.Ile481Leu