Canonical Allele Identifier: CA374610306
Gene: WHRN HGNC NCBI

Linked Data

ClinVar Variation Id: 999430
ClinVar RCV Id: RCV001295427
dbSNP Id: rs530868944

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114426281G>C , CM000671.2:g.114426281G>C GRCh38
NC_000009.11:g.117188561G>C , CM000671.1:g.117188561G>C GRCh37
NC_000009.10:g.116228382G>C NCBI36
NG_016700.1:g.84176C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699486.1:c.820C>G ENSP00000514397.1:p.Arg274Gly
ENST00000362057.4:c.1096C>G MANE Select ENSP00000354623.3:p.Arg366Gly
ENST00000673811.1:n.844C>G
ENST00000674036.8:c.279C>G
ENST00000265134.10:c.-54C>G ENSP00000265134.6:n.-54C>G
ENST00000362057.3:c.1096C>G ENSP00000354623.3:p.Arg366Gly
NM_001083885.2:c.-54C>G NP_001077354.2:n.-54C>G
NM_001173425.1:c.1096C>G NP_001166896.1:p.Arg366Gly
NM_015404.3:c.1096C>G NP_056219.3:p.Arg366Gly
XM_005251897.3:c.964-18263C>G XP_005251954.2:n.964-18263C>G
XM_011518484.1:c.1096C>G XP_011516786.1:p.Arg366Gly
XM_011518485.1:c.1096C>G XP_011516787.1:p.Arg366Gly
XM_011518486.1:c.1096C>G XP_011516788.1:p.Arg366Gly
XM_011518487.1:c.970C>G XP_011516789.1:p.Arg324Gly
XM_011518488.1:c.1096C>G XP_011516790.1:p.Arg366Gly
XM_011518489.1:c.1096C>G XP_011516791.1:p.Arg366Gly
XM_011518490.1:c.1096C>G XP_011516792.1:p.Arg366Gly
XM_011518491.1:c.1096C>G XP_011516793.1:p.Arg366Gly
XM_011518492.1:c.1096C>G XP_011516794.1:p.Arg366Gly
XM_011518493.1:c.1096C>G XP_011516795.1:p.Arg366Gly
XM_011518494.1:c.1096C>G XP_011516796.1:p.Arg366Gly
XM_011518495.1:c.-157-1257C>G XP_011516797.1:n.-157-1257C>G
XR_929747.1:n.1804C>G
XR_929748.1:n.1804C>G
XR_929749.1:n.1804C>G
XR_929750.1:n.1804C>G
XR_929751.1:n.1804C>G
XR_929752.1:n.1804C>G
XR_929753.1:n.1804C>G
XR_929754.1:n.1804C>G
XR_929755.1:n.1804C>G
XR_929756.1:n.1804C>G
XR_929757.1:n.1804C>G
XM_011518486.2:c.1096C>G XP_011516788.1:p.Arg366Gly
XM_011518487.2:c.970C>G XP_011516789.1:p.Arg324Gly
XM_011518488.2:c.1096C>G XP_011516790.1:p.Arg366Gly
XM_011518489.3:c.1096C>G XP_011516791.1:p.Arg366Gly
XM_011518491.3:c.1096C>G XP_011516793.1:p.Arg366Gly
XM_011518492.2:c.1096C>G XP_011516794.1:p.Arg366Gly
XM_011518494.3:c.1096C>G XP_011516796.1:p.Arg366Gly
XR_929747.2:n.1115C>G
XR_929748.2:n.1115C>G
XR_929749.2:n.1115C>G
XR_929750.3:n.1115C>G
XR_929752.2:n.1115C>G
XR_929753.3:n.1115C>G
XR_929754.2:n.1115C>G
XR_929755.3:n.1115C>G
XR_929756.2:n.1115C>G
XR_929757.2:n.1115C>G
NM_015404.4:c.1096C>G MANE Select NP_056219.3:p.Arg366Gly
NM_001173425.2:c.1096C>G NP_001166896.1:p.Arg366Gly
NM_001083885.3:c.-54C>G NP_001077354.2:n.-54C>G