Canonical Allele Identifier: CA374621156
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114407973T>G , CM000671.2:g.114407973T>G GRCh38
NC_000009.11:g.117170253T>G , CM000671.1:g.117170253T>G GRCh37
NC_000009.10:g.116210074T>G NCBI36
NG_016700.1:g.102484A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000362057.4:c.1672A>C MANE Select ENSP00000354623.3:p.Ile558Leu
ENST00000673811.1:n.2396A>C
ENST00000674036.8:c.645A>C
ENST00000674048.1:n.1553A>C
ENST00000265134.10:c.523A>C ENSP00000265134.6:p.Ile175Leu
ENST00000362057.3:c.1672A>C ENSP00000354623.3:p.Ile558Leu
ENST00000374059.7:c.619A>C ENSP00000363172.3:p.Ile207Leu
NM_001083885.2:c.523A>C NP_001077354.2:p.Ile175Leu
NM_001173425.1:c.1672A>C NP_001166896.1:p.Ile558Leu
NM_015404.3:c.1672A>C NP_056219.3:p.Ile558Leu
XM_005251897.3:c.1009A>C XP_005251954.2:p.Ile337Leu
XM_011518484.1:c.1705A>C XP_011516786.1:p.Ile569Leu
XM_011518485.1:c.1705A>C XP_011516787.1:p.Ile569Leu
XM_011518486.1:c.1705A>C XP_011516788.1:p.Ile569Leu
XM_011518487.1:c.1579A>C XP_011516789.1:p.Ile527Leu
XM_011518488.1:c.1462A>C XP_011516790.1:p.Ile488Leu
XM_011518492.1:c.*57A>C XP_011516794.1:n.*57A>C
XM_011518495.1:c.382A>C XP_011516797.1:p.Ile128Leu
XR_929747.1:n.2609A>C
XR_929748.1:n.2507A>C
XR_929750.1:n.2608A>C
XR_929751.1:n.2515A>C
XR_929757.1:n.2482A>C
NM_001346890.1:c.619A>C NP_001333819.1:p.Ile207Leu
XM_011518486.2:c.1705A>C XP_011516788.1:p.Ile569Leu
XM_011518487.2:c.1579A>C XP_011516789.1:p.Ile527Leu
XM_011518488.2:c.1462A>C XP_011516790.1:p.Ile488Leu
XM_011518492.2:c.*57A>C XP_011516794.1:n.*57A>C
XR_929747.2:n.1920A>C
XR_929748.2:n.1818A>C
XR_929750.3:n.1919A>C
XR_929757.2:n.1793A>C
NM_015404.4:c.1672A>C MANE Select NP_056219.3:p.Ile558Leu
NM_001173425.2:c.1672A>C NP_001166896.1:p.Ile558Leu
NM_001083885.3:c.523A>C NP_001077354.2:p.Ile175Leu