Canonical Allele Identifier: CA1873825922
Gene: WHRN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114404058C>T , CM000671.2:g.114404058C>T GRCh38
NG_016700.1:g.106399G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.600G>A ENSP00000514396.1:p.Gln200=
ENST00000362057.4:c.2256G>A MANE Select ENSP00000354623.3:p.Gln752=
ENST00000674036.8:c.1229G>A
ENST00000674048.1:n.2137G>A
ENST00000265134.10:c.1107G>A ENSP00000265134.6:p.Gln369=
ENST00000362057.3:c.2256G>A ENSP00000354623.3:p.Gln752=
ENST00000374059.7:c.1203G>A ENSP00000363172.3:p.Gln401=
NM_001083885.2:c.1107G>A NP_001077354.2:p.Gln369=
NM_001173425.1:c.2253G>A NP_001166896.1:p.Gln751=
NM_015404.3:c.2256G>A NP_056219.3:p.Gln752=
XM_005251897.3:c.1593G>A XP_005251954.2:p.Gln531=
XM_011518484.1:c.2289G>A XP_011516786.1:p.Gln763=
XM_011518485.1:c.2289G>A XP_011516787.1:p.Gln763=
XM_011518486.1:c.2286G>A XP_011516788.1:p.Gln762=
XM_011518487.1:c.2163G>A XP_011516789.1:p.Gln721=
XM_011518488.1:c.2046G>A XP_011516790.1:p.Gln682=
XM_011518495.1:c.966G>A XP_011516797.1:p.Gln322=
XR_929747.1:n.3193G>A
XR_929748.1:n.3091G>A
NM_001346890.1:c.1203G>A NP_001333819.1:p.Gln401=
XM_011518486.2:c.2286G>A XP_011516788.1:p.Gln762=
XM_011518487.2:c.2163G>A XP_011516789.1:p.Gln721=
XM_011518488.2:c.2046G>A XP_011516790.1:p.Gln682=
XR_929747.2:n.2504G>A
XR_929748.2:n.2402G>A
NM_015404.4:c.2256G>A MANE Select NP_056219.3:p.Gln752=
NM_001173425.2:c.2253G>A NP_001166896.1:p.Gln751=
NM_001083885.3:c.1107G>A NP_001077354.2:p.Gln369=