Canonical Allele Identifier: CA374618976
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114402879C>A , CM000671.2:g.114402879C>A GRCh38
NC_000009.11:g.117165159C>A , CM000671.1:g.117165159C>A GRCh37
NC_000009.10:g.116204980C>A NCBI36
NG_016700.1:g.107578G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.943G>T ENSP00000514396.1:p.Val315Leu
ENST00000362057.4:c.2599G>T MANE Select ENSP00000354623.3:p.Val867Leu
ENST00000674036.8:c.1572G>T
ENST00000674048.1:n.2480G>T
ENST00000265134.10:c.1450G>T ENSP00000265134.6:p.Val484Leu
ENST00000362057.3:c.2599G>T ENSP00000354623.3:p.Val867Leu
ENST00000374059.7:c.1546G>T ENSP00000363172.3:p.Val516Leu
NM_001083885.2:c.1450G>T NP_001077354.2:p.Val484Leu
NM_001173425.1:c.2596G>T NP_001166896.1:p.Val866Leu
NM_015404.3:c.2599G>T NP_056219.3:p.Val867Leu
XM_005251897.3:c.1936G>T XP_005251954.2:p.Val646Leu
XM_011518484.1:c.2632G>T XP_011516786.1:p.Val878Leu
XM_011518485.1:c.2632G>T XP_011516787.1:p.Val878Leu
XM_011518486.1:c.2629G>T XP_011516788.1:p.Val877Leu
XM_011518487.1:c.2506G>T XP_011516789.1:p.Val836Leu
XM_011518488.1:c.2389G>T XP_011516790.1:p.Val797Leu
XM_011518495.1:c.1309G>T XP_011516797.1:p.Val437Leu
NM_001346890.1:c.1546G>T NP_001333819.1:p.Val516Leu
XM_011518486.2:c.2629G>T XP_011516788.1:p.Val877Leu
XM_011518487.2:c.2506G>T XP_011516789.1:p.Val836Leu
XM_011518488.2:c.2389G>T XP_011516790.1:p.Val797Leu
NM_015404.4:c.2599G>T MANE Select NP_056219.3:p.Val867Leu
NM_001173425.2:c.2596G>T NP_001166896.1:p.Val866Leu
NM_001083885.3:c.1450G>T NP_001077354.2:p.Val484Leu