Canonical Allele Identifier: CA374620324
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406504G>A , CM000671.2:g.114406504G>A GRCh38
NC_000009.11:g.117168784G>A , CM000671.1:g.117168784G>A GRCh37
NC_000009.10:g.116208605G>A NCBI36
NG_016700.1:g.103953C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.431C>T ENSP00000514396.1:p.Ala144Val
ENST00000362057.4:c.2087C>T MANE Select ENSP00000354623.3:p.Ala696Val
ENST00000674036.8:c.1060C>T
ENST00000674048.1:n.1968C>T
ENST00000265134.10:c.938C>T ENSP00000265134.6:p.Ala313Val
ENST00000362057.3:c.2087C>T ENSP00000354623.3:p.Ala696Val
ENST00000374059.7:c.1034C>T ENSP00000363172.3:p.Ala345Val
NM_001083885.2:c.938C>T NP_001077354.2:p.Ala313Val
NM_001173425.1:c.2087C>T NP_001166896.1:p.Ala696Val
NM_015404.3:c.2087C>T NP_056219.3:p.Ala696Val
XM_005251897.3:c.1424C>T XP_005251954.2:p.Ala475Val
XM_011518484.1:c.2120C>T XP_011516786.1:p.Ala707Val
XM_011518485.1:c.2120C>T XP_011516787.1:p.Ala707Val
XM_011518486.1:c.2120C>T XP_011516788.1:p.Ala707Val
XM_011518487.1:c.1994C>T XP_011516789.1:p.Ala665Val
XM_011518488.1:c.1877C>T XP_011516790.1:p.Ala626Val
XM_011518495.1:c.797C>T XP_011516797.1:p.Ala266Val
XR_929747.1:n.3024C>T
XR_929748.1:n.2922C>T
NM_001346890.1:c.1034C>T NP_001333819.1:p.Ala345Val
XM_011518486.2:c.2120C>T XP_011516788.1:p.Ala707Val
XM_011518487.2:c.1994C>T XP_011516789.1:p.Ala665Val
XM_011518488.2:c.1877C>T XP_011516790.1:p.Ala626Val
XR_929747.2:n.2335C>T
XR_929748.2:n.2233C>T
NM_015404.4:c.2087C>T MANE Select NP_056219.3:p.Ala696Val
NM_001173425.2:c.2087C>T NP_001166896.1:p.Ala696Val
NM_001083885.3:c.938C>T NP_001077354.2:p.Ala313Val