Canonical Allele Identifier: CA374609720
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114426212C>G , CM000671.2:g.114426212C>G GRCh38
NC_000009.11:g.117188492C>G , CM000671.1:g.117188492C>G GRCh37
NC_000009.10:g.116228313C>G NCBI36
NG_016700.1:g.84245G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000699486.1:c.889G>C ENSP00000514397.1:p.Gly297Arg
ENST00000362057.4:c.1165G>C MANE Select ENSP00000354623.3:p.Gly389Arg
ENST00000673811.1:n.913G>C
ENST00000674036.8:c.348G>C
ENST00000265134.10:c.16G>C ENSP00000265134.6:p.Gly6Arg
ENST00000362057.3:c.1165G>C ENSP00000354623.3:p.Gly389Arg
NM_001083885.2:c.16G>C NP_001077354.2:p.Gly6Arg
NM_001173425.1:c.1165G>C NP_001166896.1:p.Gly389Arg
NM_015404.3:c.1165G>C NP_056219.3:p.Gly389Arg
XM_005251897.3:c.964-18194G>C XP_005251954.2:n.964-18194G>C
XM_011518484.1:c.1165G>C XP_011516786.1:p.Gly389Arg
XM_011518485.1:c.1165G>C XP_011516787.1:p.Gly389Arg
XM_011518486.1:c.1165G>C XP_011516788.1:p.Gly389Arg
XM_011518487.1:c.1039G>C XP_011516789.1:p.Gly347Arg
XM_011518488.1:c.1165G>C XP_011516790.1:p.Gly389Arg
XM_011518489.1:c.1165G>C XP_011516791.1:p.Gly389Arg
XM_011518490.1:c.1165G>C XP_011516792.1:p.Gly389Arg
XM_011518491.1:c.1165G>C XP_011516793.1:p.Gly389Arg
XM_011518492.1:c.1165G>C XP_011516794.1:p.Gly389Arg
XM_011518493.1:c.1165G>C XP_011516795.1:p.Gly389Arg
XM_011518494.1:c.1165G>C XP_011516796.1:p.Gly389Arg
XM_011518495.1:c.-157-1188G>C XP_011516797.1:n.-157-1188G>C
XR_929747.1:n.1873G>C
XR_929748.1:n.1873G>C
XR_929749.1:n.1873G>C
XR_929750.1:n.1873G>C
XR_929751.1:n.1873G>C
XR_929752.1:n.1873G>C
XR_929753.1:n.1873G>C
XR_929754.1:n.1873G>C
XR_929755.1:n.1873G>C
XR_929756.1:n.1873G>C
XR_929757.1:n.1873G>C
XM_011518486.2:c.1165G>C XP_011516788.1:p.Gly389Arg
XM_011518487.2:c.1039G>C XP_011516789.1:p.Gly347Arg
XM_011518488.2:c.1165G>C XP_011516790.1:p.Gly389Arg
XM_011518489.3:c.1165G>C XP_011516791.1:p.Gly389Arg
XM_011518491.3:c.1165G>C XP_011516793.1:p.Gly389Arg
XM_011518492.2:c.1165G>C XP_011516794.1:p.Gly389Arg
XM_011518494.3:c.1165G>C XP_011516796.1:p.Gly389Arg
XR_929747.2:n.1184G>C
XR_929748.2:n.1184G>C
XR_929749.2:n.1184G>C
XR_929750.3:n.1184G>C
XR_929752.2:n.1184G>C
XR_929753.3:n.1184G>C
XR_929754.2:n.1184G>C
XR_929755.3:n.1184G>C
XR_929756.2:n.1184G>C
XR_929757.2:n.1184G>C
NM_015404.4:c.1165G>C MANE Select NP_056219.3:p.Gly389Arg
NM_001173425.2:c.1165G>C NP_001166896.1:p.Gly389Arg
NM_001083885.3:c.16G>C NP_001077354.2:p.Gly6Arg