Canonical Allele Identifier: CA374610453
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114426307T>G , CM000671.2:g.114426307T>G GRCh38
NC_000009.11:g.117188587T>G , CM000671.1:g.117188587T>G GRCh37
NC_000009.10:g.116228408T>G NCBI36
NG_016700.1:g.84150A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699486.1:c.794A>C ENSP00000514397.1:p.Lys265Thr
ENST00000362057.4:c.1070A>C MANE Select ENSP00000354623.3:p.Lys357Thr
ENST00000673811.1:n.818A>C
ENST00000674036.8:c.253A>C
ENST00000265134.10:c.-80A>C ENSP00000265134.6:n.-80A>C
ENST00000362057.3:c.1070A>C ENSP00000354623.3:p.Lys357Thr
NM_001083885.2:c.-80A>C NP_001077354.2:n.-80A>C
NM_001173425.1:c.1070A>C NP_001166896.1:p.Lys357Thr
NM_015404.3:c.1070A>C NP_056219.3:p.Lys357Thr
XM_005251897.3:c.964-18289A>C XP_005251954.2:n.964-18289A>C
XM_011518484.1:c.1070A>C XP_011516786.1:p.Lys357Thr
XM_011518485.1:c.1070A>C XP_011516787.1:p.Lys357Thr
XM_011518486.1:c.1070A>C XP_011516788.1:p.Lys357Thr
XM_011518487.1:c.944A>C XP_011516789.1:p.Lys315Thr
XM_011518488.1:c.1070A>C XP_011516790.1:p.Lys357Thr
XM_011518489.1:c.1070A>C XP_011516791.1:p.Lys357Thr
XM_011518490.1:c.1070A>C XP_011516792.1:p.Lys357Thr
XM_011518491.1:c.1070A>C XP_011516793.1:p.Lys357Thr
XM_011518492.1:c.1070A>C XP_011516794.1:p.Lys357Thr
XM_011518493.1:c.1070A>C XP_011516795.1:p.Lys357Thr
XM_011518494.1:c.1070A>C XP_011516796.1:p.Lys357Thr
XM_011518495.1:c.-157-1283A>C XP_011516797.1:n.-157-1283A>C
XR_929747.1:n.1778A>C
XR_929748.1:n.1778A>C
XR_929749.1:n.1778A>C
XR_929750.1:n.1778A>C
XR_929751.1:n.1778A>C
XR_929752.1:n.1778A>C
XR_929753.1:n.1778A>C
XR_929754.1:n.1778A>C
XR_929755.1:n.1778A>C
XR_929756.1:n.1778A>C
XR_929757.1:n.1778A>C
XM_011518486.2:c.1070A>C XP_011516788.1:p.Lys357Thr
XM_011518487.2:c.944A>C XP_011516789.1:p.Lys315Thr
XM_011518488.2:c.1070A>C XP_011516790.1:p.Lys357Thr
XM_011518489.3:c.1070A>C XP_011516791.1:p.Lys357Thr
XM_011518491.3:c.1070A>C XP_011516793.1:p.Lys357Thr
XM_011518492.2:c.1070A>C XP_011516794.1:p.Lys357Thr
XM_011518494.3:c.1070A>C XP_011516796.1:p.Lys357Thr
XR_929747.2:n.1089A>C
XR_929748.2:n.1089A>C
XR_929749.2:n.1089A>C
XR_929750.3:n.1089A>C
XR_929752.2:n.1089A>C
XR_929753.3:n.1089A>C
XR_929754.2:n.1089A>C
XR_929755.3:n.1089A>C
XR_929756.2:n.1089A>C
XR_929757.2:n.1089A>C
NM_015404.4:c.1070A>C MANE Select NP_056219.3:p.Lys357Thr
NM_001173425.2:c.1070A>C NP_001166896.1:p.Lys357Thr
NM_001083885.3:c.-80A>C NP_001077354.2:n.-80A>C