Canonical Allele Identifier: CA374619093
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114402934T>A , CM000671.2:g.114402934T>A GRCh38
NC_000009.11:g.117165214T>A , CM000671.1:g.117165214T>A GRCh37
NC_000009.10:g.116205035T>A NCBI36
NG_016700.1:g.107523A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.888A>T ENSP00000514396.1:p.Arg296Ser
ENST00000362057.4:c.2544A>T MANE Select ENSP00000354623.3:p.Arg848Ser
ENST00000674036.8:c.1517A>T
ENST00000674048.1:n.2425A>T
ENST00000265134.10:c.1395A>T ENSP00000265134.6:p.Arg465Ser
ENST00000362057.3:c.2544A>T ENSP00000354623.3:p.Arg848Ser
ENST00000374059.7:c.1491A>T ENSP00000363172.3:p.Arg497Ser
NM_001083885.2:c.1395A>T NP_001077354.2:p.Arg465Ser
NM_001173425.1:c.2541A>T NP_001166896.1:p.Arg847Ser
NM_015404.3:c.2544A>T NP_056219.3:p.Arg848Ser
XM_005251897.3:c.1881A>T XP_005251954.2:p.Arg627Ser
XM_011518484.1:c.2577A>T XP_011516786.1:p.Arg859Ser
XM_011518485.1:c.2577A>T XP_011516787.1:p.Arg859Ser
XM_011518486.1:c.2574A>T XP_011516788.1:p.Arg858Ser
XM_011518487.1:c.2451A>T XP_011516789.1:p.Arg817Ser
XM_011518488.1:c.2334A>T XP_011516790.1:p.Arg778Ser
XM_011518495.1:c.1254A>T XP_011516797.1:p.Arg418Ser
XR_929747.1:n.3481A>T
XR_929748.1:n.3379A>T
NM_001346890.1:c.1491A>T NP_001333819.1:p.Arg497Ser
XM_011518486.2:c.2574A>T XP_011516788.1:p.Arg858Ser
XM_011518487.2:c.2451A>T XP_011516789.1:p.Arg817Ser
XM_011518488.2:c.2334A>T XP_011516790.1:p.Arg778Ser
XR_929747.2:n.2792A>T
XR_929748.2:n.2690A>T
NM_015404.4:c.2544A>T MANE Select NP_056219.3:p.Arg848Ser
NM_001173425.2:c.2541A>T NP_001166896.1:p.Arg847Ser
NM_001083885.3:c.1395A>T NP_001077354.2:p.Arg465Ser