Canonical Allele Identifier: CA466911427
Gene: WHRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.117168687G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406407G>C , CM000671.2:g.114406407G>C GRCh38
NC_000009.11:g.117168687G>C , CM000671.1:g.117168687G>C GRCh37
NC_000009.10:g.116208508G>C NCBI36
NG_016700.1:g.104050C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.528C>G ENSP00000514396.1:p.Arg176=
ENST00000362057.4:c.2184C>G MANE Select ENSP00000354623.3:p.Arg728=
ENST00000674036.8:c.1157C>G
ENST00000674048.1:n.2065C>G
ENST00000265134.10:c.1035C>G ENSP00000265134.6:p.Arg345=
ENST00000362057.3:c.2184C>G ENSP00000354623.3:p.Arg728=
ENST00000374059.7:c.1131C>G ENSP00000363172.3:p.Arg377=
NM_001083885.2:c.1035C>G NP_001077354.2:p.Arg345=
NM_001173425.1:c.2184C>G NP_001166896.1:p.Arg728=
NM_015404.3:c.2184C>G NP_056219.3:p.Arg728=
XM_005251897.3:c.1521C>G XP_005251954.2:p.Arg507=
XM_011518484.1:c.2217C>G XP_011516786.1:p.Arg739=
XM_011518485.1:c.2217C>G XP_011516787.1:p.Arg739=
XM_011518486.1:c.2217C>G XP_011516788.1:p.Arg739=
XM_011518487.1:c.2091C>G XP_011516789.1:p.Arg697=
XM_011518488.1:c.1974C>G XP_011516790.1:p.Arg658=
XM_011518495.1:c.894C>G XP_011516797.1:p.Arg298=
XR_929747.1:n.3121C>G
XR_929748.1:n.3019C>G
NM_001346890.1:c.1131C>G NP_001333819.1:p.Arg377=
XM_011518486.2:c.2217C>G XP_011516788.1:p.Arg739=
XM_011518487.2:c.2091C>G XP_011516789.1:p.Arg697=
XM_011518488.2:c.1974C>G XP_011516790.1:p.Arg658=
XR_929747.2:n.2432C>G
XR_929748.2:n.2330C>G
NM_015404.4:c.2184C>G MANE Select NP_056219.3:p.Arg728=
NM_001173425.2:c.2184C>G NP_001166896.1:p.Arg728=
NM_001083885.3:c.1035C>G NP_001077354.2:p.Arg345=