Canonical Allele Identifier: CA374620143
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406418C>A , CM000671.2:g.114406418C>A GRCh38
NC_000009.11:g.117168698C>A , CM000671.1:g.117168698C>A GRCh37
NC_000009.10:g.116208519C>A NCBI36
NG_016700.1:g.104039G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.517G>T ENSP00000514396.1:p.Glu173Ter
ENST00000362057.4:c.2173G>T MANE Select ENSP00000354623.3:p.Glu725Ter
ENST00000674036.8:c.1146G>T
ENST00000674048.1:n.2054G>T
ENST00000265134.10:c.1024G>T ENSP00000265134.6:p.Glu342Ter
ENST00000362057.3:c.2173G>T ENSP00000354623.3:p.Glu725Ter
ENST00000374059.7:c.1120G>T ENSP00000363172.3:p.Glu374Ter
NM_001083885.2:c.1024G>T NP_001077354.2:p.Glu342Ter
NM_001173425.1:c.2173G>T NP_001166896.1:p.Glu725Ter
NM_015404.3:c.2173G>T NP_056219.3:p.Glu725Ter
XM_005251897.3:c.1510G>T XP_005251954.2:p.Glu504Ter
XM_011518484.1:c.2206G>T XP_011516786.1:p.Glu736Ter
XM_011518485.1:c.2206G>T XP_011516787.1:p.Glu736Ter
XM_011518486.1:c.2206G>T XP_011516788.1:p.Glu736Ter
XM_011518487.1:c.2080G>T XP_011516789.1:p.Glu694Ter
XM_011518488.1:c.1963G>T XP_011516790.1:p.Glu655Ter
XM_011518495.1:c.883G>T XP_011516797.1:p.Glu295Ter
XR_929747.1:n.3110G>T
XR_929748.1:n.3008G>T
NM_001346890.1:c.1120G>T NP_001333819.1:p.Glu374Ter
XM_011518486.2:c.2206G>T XP_011516788.1:p.Glu736Ter
XM_011518487.2:c.2080G>T XP_011516789.1:p.Glu694Ter
XM_011518488.2:c.1963G>T XP_011516790.1:p.Glu655Ter
XR_929747.2:n.2421G>T
XR_929748.2:n.2319G>T
NM_015404.4:c.2173G>T MANE Select NP_056219.3:p.Glu725Ter
NM_001173425.2:c.2173G>T NP_001166896.1:p.Glu725Ter
NM_001083885.3:c.1024G>T NP_001077354.2:p.Glu342Ter