Canonical Allele Identifier: CA374618938
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114402855T>G , CM000671.2:g.114402855T>G GRCh38
NC_000009.11:g.117165135T>G , CM000671.1:g.117165135T>G GRCh37
NC_000009.10:g.116204956T>G NCBI36
NG_016700.1:g.107602A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.967A>C ENSP00000514396.1:p.Lys323Gln
ENST00000362057.4:c.2623A>C MANE Select ENSP00000354623.3:p.Lys875Gln
ENST00000674036.8:c.1596A>C
ENST00000674048.1:n.2504A>C
ENST00000265134.10:c.1474A>C ENSP00000265134.6:p.Lys492Gln
ENST00000362057.3:c.2623A>C ENSP00000354623.3:p.Lys875Gln
ENST00000374059.7:c.1570A>C ENSP00000363172.3:p.Lys524Gln
NM_001083885.2:c.1474A>C NP_001077354.2:p.Lys492Gln
NM_001173425.1:c.2620A>C NP_001166896.1:p.Lys874Gln
NM_015404.3:c.2623A>C NP_056219.3:p.Lys875Gln
XM_005251897.3:c.1960A>C XP_005251954.2:p.Lys654Gln
XM_011518484.1:c.2656A>C XP_011516786.1:p.Lys886Gln
XM_011518485.1:c.2656A>C XP_011516787.1:p.Lys886Gln
XM_011518486.1:c.2653A>C XP_011516788.1:p.Lys885Gln
XM_011518487.1:c.2530A>C XP_011516789.1:p.Lys844Gln
XM_011518488.1:c.2413A>C XP_011516790.1:p.Lys805Gln
XM_011518495.1:c.1333A>C XP_011516797.1:p.Lys445Gln
NM_001346890.1:c.1570A>C NP_001333819.1:p.Lys524Gln
XM_011518486.2:c.2653A>C XP_011516788.1:p.Lys885Gln
XM_011518487.2:c.2530A>C XP_011516789.1:p.Lys844Gln
XM_011518488.2:c.2413A>C XP_011516790.1:p.Lys805Gln
NM_015404.4:c.2623A>C MANE Select NP_056219.3:p.Lys875Gln
NM_001173425.2:c.2620A>C NP_001166896.1:p.Lys874Gln
NM_001083885.3:c.1474A>C NP_001077354.2:p.Lys492Gln