Canonical Allele Identifier: CA374621162
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114407976T>G , CM000671.2:g.114407976T>G GRCh38
NC_000009.11:g.117170256T>G , CM000671.1:g.117170256T>G GRCh37
NC_000009.10:g.116210077T>G NCBI36
NG_016700.1:g.102481A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000362057.4:c.1669A>C MANE Select ENSP00000354623.3:p.Asn557His
ENST00000673811.1:n.2393A>C
ENST00000674036.8:c.642A>C
ENST00000674048.1:n.1550A>C
ENST00000265134.10:c.520A>C ENSP00000265134.6:p.Asn174His
ENST00000362057.3:c.1669A>C ENSP00000354623.3:p.Asn557His
ENST00000374059.7:c.616A>C ENSP00000363172.3:p.Asn206His
NM_001083885.2:c.520A>C NP_001077354.2:p.Asn174His
NM_001173425.1:c.1669A>C NP_001166896.1:p.Asn557His
NM_015404.3:c.1669A>C NP_056219.3:p.Asn557His
XM_005251897.3:c.1006A>C XP_005251954.2:p.Asn336His
XM_011518484.1:c.1702A>C XP_011516786.1:p.Asn568His
XM_011518485.1:c.1702A>C XP_011516787.1:p.Asn568His
XM_011518486.1:c.1702A>C XP_011516788.1:p.Asn568His
XM_011518487.1:c.1576A>C XP_011516789.1:p.Asn526His
XM_011518488.1:c.1459A>C XP_011516790.1:p.Asn487His
XM_011518492.1:c.*54A>C XP_011516794.1:n.*54A>C
XM_011518495.1:c.379A>C XP_011516797.1:p.Asn127His
XR_929747.1:n.2606A>C
XR_929748.1:n.2504A>C
XR_929750.1:n.2605A>C
XR_929751.1:n.2512A>C
XR_929757.1:n.2479A>C
NM_001346890.1:c.616A>C NP_001333819.1:p.Asn206His
XM_011518486.2:c.1702A>C XP_011516788.1:p.Asn568His
XM_011518487.2:c.1576A>C XP_011516789.1:p.Asn526His
XM_011518488.2:c.1459A>C XP_011516790.1:p.Asn487His
XM_011518492.2:c.*54A>C XP_011516794.1:n.*54A>C
XR_929747.2:n.1917A>C
XR_929748.2:n.1815A>C
XR_929750.3:n.1916A>C
XR_929757.2:n.1790A>C
NM_015404.4:c.1669A>C MANE Select NP_056219.3:p.Asn557His
NM_001173425.2:c.1669A>C NP_001166896.1:p.Asn557His
NM_001083885.3:c.520A>C NP_001077354.2:p.Asn174His