Canonical Allele Identifier: CA466911468
Gene: WHRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.117168699C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406419C>A , CM000671.2:g.114406419C>A GRCh38
NC_000009.11:g.117168699C>A , CM000671.1:g.117168699C>A GRCh37
NC_000009.10:g.116208520C>A NCBI36
NG_016700.1:g.104038G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.516G>T ENSP00000514396.1:p.Val172=
ENST00000362057.4:c.2172G>T MANE Select ENSP00000354623.3:p.Val724=
ENST00000674036.8:c.1145G>T
ENST00000674048.1:n.2053G>T
ENST00000265134.10:c.1023G>T ENSP00000265134.6:p.Val341=
ENST00000362057.3:c.2172G>T ENSP00000354623.3:p.Val724=
ENST00000374059.7:c.1119G>T ENSP00000363172.3:p.Val373=
NM_001083885.2:c.1023G>T NP_001077354.2:p.Val341=
NM_001173425.1:c.2172G>T NP_001166896.1:p.Val724=
NM_015404.3:c.2172G>T NP_056219.3:p.Val724=
XM_005251897.3:c.1509G>T XP_005251954.2:p.Val503=
XM_011518484.1:c.2205G>T XP_011516786.1:p.Val735=
XM_011518485.1:c.2205G>T XP_011516787.1:p.Val735=
XM_011518486.1:c.2205G>T XP_011516788.1:p.Val735=
XM_011518487.1:c.2079G>T XP_011516789.1:p.Val693=
XM_011518488.1:c.1962G>T XP_011516790.1:p.Val654=
XM_011518495.1:c.882G>T XP_011516797.1:p.Val294=
XR_929747.1:n.3109G>T
XR_929748.1:n.3007G>T
NM_001346890.1:c.1119G>T NP_001333819.1:p.Val373=
XM_011518486.2:c.2205G>T XP_011516788.1:p.Val735=
XM_011518487.2:c.2079G>T XP_011516789.1:p.Val693=
XM_011518488.2:c.1962G>T XP_011516790.1:p.Val654=
XR_929747.2:n.2420G>T
XR_929748.2:n.2318G>T
NM_015404.4:c.2172G>T MANE Select NP_056219.3:p.Val724=
NM_001173425.2:c.2172G>T NP_001166896.1:p.Val724=
NM_001083885.3:c.1023G>T NP_001077354.2:p.Val341=