Canonical Allele Identifier: CA466782134
Gene: WHRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.117170254A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114407974A>G , CM000671.2:g.114407974A>G GRCh38
NC_000009.11:g.117170254A>G , CM000671.1:g.117170254A>G GRCh37
NC_000009.10:g.116210075A>G NCBI36
NG_016700.1:g.102483T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000362057.4:c.1671T>C MANE Select ENSP00000354623.3:p.Asn557=
ENST00000673811.1:n.2395T>C
ENST00000674036.8:c.644T>C
ENST00000674048.1:n.1552T>C
ENST00000265134.10:c.522T>C ENSP00000265134.6:p.Asn174=
ENST00000362057.3:c.1671T>C ENSP00000354623.3:p.Asn557=
ENST00000374059.7:c.618T>C ENSP00000363172.3:p.Asn206=
NM_001083885.2:c.522T>C NP_001077354.2:p.Asn174=
NM_001173425.1:c.1671T>C NP_001166896.1:p.Asn557=
NM_015404.3:c.1671T>C NP_056219.3:p.Asn557=
XM_005251897.3:c.1008T>C XP_005251954.2:p.Asn336=
XM_011518484.1:c.1704T>C XP_011516786.1:p.Asn568=
XM_011518485.1:c.1704T>C XP_011516787.1:p.Asn568=
XM_011518486.1:c.1704T>C XP_011516788.1:p.Asn568=
XM_011518487.1:c.1578T>C XP_011516789.1:p.Asn526=
XM_011518488.1:c.1461T>C XP_011516790.1:p.Asn487=
XM_011518492.1:c.*56T>C XP_011516794.1:n.*56T>C
XM_011518495.1:c.381T>C XP_011516797.1:p.Asn127=
XR_929747.1:n.2608T>C
XR_929748.1:n.2506T>C
XR_929750.1:n.2607T>C
XR_929751.1:n.2514T>C
XR_929757.1:n.2481T>C
NM_001346890.1:c.618T>C NP_001333819.1:p.Asn206=
XM_011518486.2:c.1704T>C XP_011516788.1:p.Asn568=
XM_011518487.2:c.1578T>C XP_011516789.1:p.Asn526=
XM_011518488.2:c.1461T>C XP_011516790.1:p.Asn487=
XM_011518492.2:c.*56T>C XP_011516794.1:n.*56T>C
XR_929747.2:n.1919T>C
XR_929748.2:n.1817T>C
XR_929750.3:n.1918T>C
XR_929757.2:n.1792T>C
NM_015404.4:c.1671T>C MANE Select NP_056219.3:p.Asn557=
NM_001173425.2:c.1671T>C NP_001166896.1:p.Asn557=
NM_001083885.3:c.522T>C NP_001077354.2:p.Asn174=