Canonical Allele Identifier: CA466781895
Gene: WHRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.117166209C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114403929C>G , CM000671.2:g.114403929C>G GRCh38
NC_000009.11:g.117166209C>G , CM000671.1:g.117166209C>G GRCh37
NC_000009.10:g.116206030C>G NCBI36
NG_016700.1:g.106528G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.729G>C ENSP00000514396.1:p.Arg243=
ENST00000362057.4:c.2385G>C MANE Select ENSP00000354623.3:p.Arg795=
ENST00000674036.8:c.1358G>C
ENST00000674048.1:n.2266G>C
ENST00000265134.10:c.1236G>C ENSP00000265134.6:p.Arg412=
ENST00000362057.3:c.2385G>C ENSP00000354623.3:p.Arg795=
ENST00000374059.7:c.1332G>C ENSP00000363172.3:p.Arg444=
NM_001083885.2:c.1236G>C NP_001077354.2:p.Arg412=
NM_001173425.1:c.2382G>C NP_001166896.1:p.Arg794=
NM_015404.3:c.2385G>C NP_056219.3:p.Arg795=
XM_005251897.3:c.1722G>C XP_005251954.2:p.Arg574=
XM_011518484.1:c.2418G>C XP_011516786.1:p.Arg806=
XM_011518485.1:c.2418G>C XP_011516787.1:p.Arg806=
XM_011518486.1:c.2415G>C XP_011516788.1:p.Arg805=
XM_011518487.1:c.2292G>C XP_011516789.1:p.Arg764=
XM_011518488.1:c.2175G>C XP_011516790.1:p.Arg725=
XM_011518495.1:c.1095G>C XP_011516797.1:p.Arg365=
XR_929747.1:n.3322G>C
XR_929748.1:n.3220G>C
NM_001346890.1:c.1332G>C NP_001333819.1:p.Arg444=
XM_011518486.2:c.2415G>C XP_011516788.1:p.Arg805=
XM_011518487.2:c.2292G>C XP_011516789.1:p.Arg764=
XM_011518488.2:c.2175G>C XP_011516790.1:p.Arg725=
XR_929747.2:n.2633G>C
XR_929748.2:n.2531G>C
NM_015404.4:c.2385G>C MANE Select NP_056219.3:p.Arg795=
NM_001173425.2:c.2382G>C NP_001166896.1:p.Arg794=
NM_001083885.3:c.1236G>C NP_001077354.2:p.Arg412=