Canonical Allele Identifier: CA182132
Gene: WHRN HGNC NCBI

Linked Data

ClinVar Variation Id: 178336
dbSNP Id: rs142568702

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406599C>T , CM000671.2:g.114406599C>T GRCh38
NC_000009.11:g.117168879C>T , CM000671.1:g.117168879C>T GRCh37
NC_000009.10:g.116208700C>T NCBI36
NG_016700.1:g.103858G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000362057.4:c.1992G>A MANE Select ENSP00000354623.3:p.Pro664=
ENST00000674036.8:n.965G>A
ENST00000674048.1:n.1873G>A
ENST00000265134.10:c.843G>A ENSP00000265134.6:p.Pro281=
ENST00000362057.3:c.1992G>A ENSP00000354623.3:p.Pro664=
ENST00000374059.7:c.939G>A ENSP00000363172.3:p.Pro313=
NM_001083885.2:c.843G>A NP_001077354.2:p.Pro281=
NM_001173425.1:c.1992G>A NP_001166896.1:p.Pro664=
NM_015404.3:c.1992G>A NP_056219.3:p.Pro664=
XM_005251897.3:c.1329G>A XP_005251954.2:p.Pro443=
XM_011518484.1:c.2025G>A XP_011516786.1:p.Pro675=
XM_011518485.1:c.2025G>A XP_011516787.1:p.Pro675=
XM_011518486.1:c.2025G>A XP_011516788.1:p.Pro675=
XM_011518487.1:c.1899G>A XP_011516789.1:p.Pro633=
XM_011518488.1:c.1782G>A XP_011516790.1:p.Pro594=
XM_011518495.1:c.702G>A XP_011516797.1:p.Pro234=
XR_929747.1:n.2929G>A
XR_929748.1:n.2827G>A
NM_001346890.1:c.939G>A NP_001333819.1:p.Pro313=
XM_011518486.2:c.2025G>A XP_011516788.1:p.Pro675=
XM_011518487.2:c.1899G>A XP_011516789.1:p.Pro633=
XM_011518488.2:c.1782G>A XP_011516790.1:p.Pro594=
XR_929747.2:n.2240G>A
XR_929748.2:n.2138G>A
NM_015404.4:c.1992G>A MANE Select NP_056219.3:p.Pro664=
NM_001173425.2:c.1992G>A NP_001166896.1:p.Pro664=
NM_001083885.3:c.843G>A NP_001077354.2:p.Pro281=