Canonical Allele Identifier: CA374620134
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406414A>G , CM000671.2:g.114406414A>G GRCh38
NC_000009.11:g.117168694A>G , CM000671.1:g.117168694A>G GRCh37
NC_000009.10:g.116208515A>G NCBI36
NG_016700.1:g.104043T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.521T>C ENSP00000514396.1:p.Val174Ala
ENST00000362057.4:c.2177T>C MANE Select ENSP00000354623.3:p.Val726Ala
ENST00000674036.8:c.1150T>C
ENST00000674048.1:n.2058T>C
ENST00000265134.10:c.1028T>C ENSP00000265134.6:p.Val343Ala
ENST00000362057.3:c.2177T>C ENSP00000354623.3:p.Val726Ala
ENST00000374059.7:c.1124T>C ENSP00000363172.3:p.Val375Ala
NM_001083885.2:c.1028T>C NP_001077354.2:p.Val343Ala
NM_001173425.1:c.2177T>C NP_001166896.1:p.Val726Ala
NM_015404.3:c.2177T>C NP_056219.3:p.Val726Ala
XM_005251897.3:c.1514T>C XP_005251954.2:p.Val505Ala
XM_011518484.1:c.2210T>C XP_011516786.1:p.Val737Ala
XM_011518485.1:c.2210T>C XP_011516787.1:p.Val737Ala
XM_011518486.1:c.2210T>C XP_011516788.1:p.Val737Ala
XM_011518487.1:c.2084T>C XP_011516789.1:p.Val695Ala
XM_011518488.1:c.1967T>C XP_011516790.1:p.Val656Ala
XM_011518495.1:c.887T>C XP_011516797.1:p.Val296Ala
XR_929747.1:n.3114T>C
XR_929748.1:n.3012T>C
NM_001346890.1:c.1124T>C NP_001333819.1:p.Val375Ala
XM_011518486.2:c.2210T>C XP_011516788.1:p.Val737Ala
XM_011518487.2:c.2084T>C XP_011516789.1:p.Val695Ala
XM_011518488.2:c.1967T>C XP_011516790.1:p.Val656Ala
XR_929747.2:n.2425T>C
XR_929748.2:n.2323T>C
NM_015404.4:c.2177T>C MANE Select NP_056219.3:p.Val726Ala
NM_001173425.2:c.2177T>C NP_001166896.1:p.Val726Ala
NM_001083885.3:c.1028T>C NP_001077354.2:p.Val343Ala