Canonical Allele Identifier: CA374618881
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114402827A>C , CM000671.2:g.114402827A>C GRCh38
NC_000009.11:g.117165107A>C , CM000671.1:g.117165107A>C GRCh37
NC_000009.10:g.116204928A>C NCBI36
NG_016700.1:g.107630T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.995T>G ENSP00000514396.1:p.Ile332Ser
ENST00000362057.4:c.2651T>G MANE Select ENSP00000354623.3:p.Ile884Ser
ENST00000674036.8:c.1624T>G
ENST00000674048.1:n.2532T>G
ENST00000265134.10:c.1502T>G ENSP00000265134.6:p.Ile501Ser
ENST00000362057.3:c.2651T>G ENSP00000354623.3:p.Ile884Ser
ENST00000374059.7:c.1598T>G ENSP00000363172.3:p.Ile533Ser
NM_001083885.2:c.1502T>G NP_001077354.2:p.Ile501Ser
NM_001173425.1:c.2648T>G NP_001166896.1:p.Ile883Ser
NM_015404.3:c.2651T>G NP_056219.3:p.Ile884Ser
XM_005251897.3:c.1988T>G XP_005251954.2:p.Ile663Ser
XM_011518484.1:c.2684T>G XP_011516786.1:p.Ile895Ser
XM_011518485.1:c.2684T>G XP_011516787.1:p.Ile895Ser
XM_011518486.1:c.2681T>G XP_011516788.1:p.Ile894Ser
XM_011518487.1:c.2558T>G XP_011516789.1:p.Ile853Ser
XM_011518488.1:c.2441T>G XP_011516790.1:p.Ile814Ser
XM_011518495.1:c.1361T>G XP_011516797.1:p.Ile454Ser
NM_001346890.1:c.1598T>G NP_001333819.1:p.Ile533Ser
XM_011518486.2:c.2681T>G XP_011516788.1:p.Ile894Ser
XM_011518487.2:c.2558T>G XP_011516789.1:p.Ile853Ser
XM_011518488.2:c.2441T>G XP_011516790.1:p.Ile814Ser
NM_015404.4:c.2651T>G MANE Select NP_056219.3:p.Ile884Ser
NM_001173425.2:c.2648T>G NP_001166896.1:p.Ile883Ser
NM_001083885.3:c.1502T>G NP_001077354.2:p.Ile501Ser