Canonical Allele Identifier: CA374621145
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114407967C>G , CM000671.2:g.114407967C>G GRCh38
NC_000009.11:g.117170247C>G , CM000671.1:g.117170247C>G GRCh37
NC_000009.10:g.116210068C>G NCBI36
NG_016700.1:g.102490G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000362057.4:c.1678G>C MANE Select ENSP00000354623.3:p.Ala560Pro
ENST00000673811.1:n.2402G>C
ENST00000674036.8:c.651G>C
ENST00000674048.1:n.1559G>C
ENST00000265134.10:c.529G>C ENSP00000265134.6:p.Ala177Pro
ENST00000362057.3:c.1678G>C ENSP00000354623.3:p.Ala560Pro
ENST00000374059.7:c.625G>C ENSP00000363172.3:p.Ala209Pro
NM_001083885.2:c.529G>C NP_001077354.2:p.Ala177Pro
NM_001173425.1:c.1678G>C NP_001166896.1:p.Ala560Pro
NM_015404.3:c.1678G>C NP_056219.3:p.Ala560Pro
XM_005251897.3:c.1015G>C XP_005251954.2:p.Ala339Pro
XM_011518484.1:c.1711G>C XP_011516786.1:p.Ala571Pro
XM_011518485.1:c.1711G>C XP_011516787.1:p.Ala571Pro
XM_011518486.1:c.1711G>C XP_011516788.1:p.Ala571Pro
XM_011518487.1:c.1585G>C XP_011516789.1:p.Ala529Pro
XM_011518488.1:c.1468G>C XP_011516790.1:p.Ala490Pro
XM_011518492.1:c.*63G>C XP_011516794.1:n.*63G>C
XM_011518495.1:c.388G>C XP_011516797.1:p.Ala130Pro
XR_929747.1:n.2615G>C
XR_929748.1:n.2513G>C
XR_929750.1:n.2614G>C
XR_929751.1:n.2521G>C
XR_929757.1:n.2488G>C
NM_001346890.1:c.625G>C NP_001333819.1:p.Ala209Pro
XM_011518486.2:c.1711G>C XP_011516788.1:p.Ala571Pro
XM_011518487.2:c.1585G>C XP_011516789.1:p.Ala529Pro
XM_011518488.2:c.1468G>C XP_011516790.1:p.Ala490Pro
XM_011518492.2:c.*63G>C XP_011516794.1:n.*63G>C
XR_929747.2:n.1926G>C
XR_929748.2:n.1824G>C
XR_929750.3:n.1925G>C
XR_929757.2:n.1799G>C
NM_015404.4:c.1678G>C MANE Select NP_056219.3:p.Ala560Pro
NM_001173425.2:c.1678G>C NP_001166896.1:p.Ala560Pro
NM_001083885.3:c.529G>C NP_001077354.2:p.Ala177Pro