Canonical Allele Identifier: CA374619555
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114403928T>G , CM000671.2:g.114403928T>G GRCh38
NC_000009.11:g.117166208T>G , CM000671.1:g.117166208T>G GRCh37
NC_000009.10:g.116206029T>G NCBI36
NG_016700.1:g.106529A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.730A>C ENSP00000514396.1:p.Asn244His
ENST00000362057.4:c.2386A>C MANE Select ENSP00000354623.3:p.Asn796His
ENST00000674036.8:c.1359A>C
ENST00000674048.1:n.2267A>C
ENST00000265134.10:c.1237A>C ENSP00000265134.6:p.Asn413His
ENST00000362057.3:c.2386A>C ENSP00000354623.3:p.Asn796His
ENST00000374059.7:c.1333A>C ENSP00000363172.3:p.Asn445His
NM_001083885.2:c.1237A>C NP_001077354.2:p.Asn413His
NM_001173425.1:c.2383A>C NP_001166896.1:p.Asn795His
NM_015404.3:c.2386A>C NP_056219.3:p.Asn796His
XM_005251897.3:c.1723A>C XP_005251954.2:p.Asn575His
XM_011518484.1:c.2419A>C XP_011516786.1:p.Asn807His
XM_011518485.1:c.2419A>C XP_011516787.1:p.Asn807His
XM_011518486.1:c.2416A>C XP_011516788.1:p.Asn806His
XM_011518487.1:c.2293A>C XP_011516789.1:p.Asn765His
XM_011518488.1:c.2176A>C XP_011516790.1:p.Asn726His
XM_011518495.1:c.1096A>C XP_011516797.1:p.Asn366His
XR_929747.1:n.3323A>C
XR_929748.1:n.3221A>C
NM_001346890.1:c.1333A>C NP_001333819.1:p.Asn445His
XM_011518486.2:c.2416A>C XP_011516788.1:p.Asn806His
XM_011518487.2:c.2293A>C XP_011516789.1:p.Asn765His
XM_011518488.2:c.2176A>C XP_011516790.1:p.Asn726His
XR_929747.2:n.2634A>C
XR_929748.2:n.2532A>C
NM_015404.4:c.2386A>C MANE Select NP_056219.3:p.Asn796His
NM_001173425.2:c.2383A>C NP_001166896.1:p.Asn795His
NM_001083885.3:c.1237A>C NP_001077354.2:p.Asn413His