Canonical Allele Identifier: CA374619943
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114404047C>A , CM000671.2:g.114404047C>A GRCh38
NC_000009.11:g.117166327C>A , CM000671.1:g.117166327C>A GRCh37
NC_000009.10:g.116206148C>A NCBI36
NG_016700.1:g.106410G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.611G>T ENSP00000514396.1:p.Ser204Ile
ENST00000362057.4:c.2267G>T MANE Select ENSP00000354623.3:p.Ser756Ile
ENST00000674036.8:c.1240G>T
ENST00000674048.1:n.2148G>T
ENST00000265134.10:c.1118G>T ENSP00000265134.6:p.Ser373Ile
ENST00000362057.3:c.2267G>T ENSP00000354623.3:p.Ser756Ile
ENST00000374059.7:c.1214G>T ENSP00000363172.3:p.Ser405Ile
NM_001083885.2:c.1118G>T NP_001077354.2:p.Ser373Ile
NM_001173425.1:c.2264G>T NP_001166896.1:p.Ser755Ile
NM_015404.3:c.2267G>T NP_056219.3:p.Ser756Ile
XM_005251897.3:c.1604G>T XP_005251954.2:p.Ser535Ile
XM_011518484.1:c.2300G>T XP_011516786.1:p.Ser767Ile
XM_011518485.1:c.2300G>T XP_011516787.1:p.Ser767Ile
XM_011518486.1:c.2297G>T XP_011516788.1:p.Ser766Ile
XM_011518487.1:c.2174G>T XP_011516789.1:p.Ser725Ile
XM_011518488.1:c.2057G>T XP_011516790.1:p.Ser686Ile
XM_011518495.1:c.977G>T XP_011516797.1:p.Ser326Ile
XR_929747.1:n.3204G>T
XR_929748.1:n.3102G>T
NM_001346890.1:c.1214G>T NP_001333819.1:p.Ser405Ile
XM_011518486.2:c.2297G>T XP_011516788.1:p.Ser766Ile
XM_011518487.2:c.2174G>T XP_011516789.1:p.Ser725Ile
XM_011518488.2:c.2057G>T XP_011516790.1:p.Ser686Ile
XR_929747.2:n.2515G>T
XR_929748.2:n.2413G>T
NM_015404.4:c.2267G>T MANE Select NP_056219.3:p.Ser756Ile
NM_001173425.2:c.2264G>T NP_001166896.1:p.Ser755Ile
NM_001083885.3:c.1118G>T NP_001077354.2:p.Ser373Ile