Canonical Allele Identifier: CA374619716

Gene: WHRN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114403969G>T , CM000671.2:g.114403969G>T	GRCh38
NC_000009.11:g.117166249G>T , CM000671.1:g.117166249G>T	GRCh37
NC_000009.10:g.116206070G>T	NCBI36
NG_016700.1:g.106488C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015404.4:c.2345C>A MANE Select	NP_056219.3:p.Ser782Ter
ENST00000362057.4:c.2345C>A MANE Select	ENSP00000354623.3:p.Ser782Ter
NM_001083885.2:c.1196C>A	NP_001077354.2:p.Ser399Ter
NM_001083885.3:c.1196C>A	NP_001077354.2:p.Ser399Ter
NM_001173425.1:c.2342C>A	NP_001166896.1:p.Ser781Ter
NM_001173425.2:c.2342C>A	NP_001166896.1:p.Ser781Ter
NM_001346890.1:c.1292C>A	NP_001333819.1:p.Ser431Ter
NM_015404.3:c.2345C>A	NP_056219.3:p.Ser782Ter
ENST00000265134.10:c.1196C>A	ENSP00000265134.6:p.Ser399Ter
ENST00000362057.3:c.2345C>A	ENSP00000354623.3:p.Ser782Ter
ENST00000374059.7:c.1292C>A	ENSP00000363172.3:p.Ser431Ter
ENST00000674036.8:c.1318C>A
ENST00000674048.1:n.2226C>A
ENST00000699485.1:c.689C>A	ENSP00000514396.1:p.Ser230Ter
XM_005251897.3:c.1682C>A	XP_005251954.2:p.Ser561Ter
XM_011518484.1:c.2378C>A	XP_011516786.1:p.Ser793Ter
XM_011518485.1:c.2378C>A	XP_011516787.1:p.Ser793Ter
XM_011518486.1:c.2375C>A	XP_011516788.1:p.Ser792Ter
XM_011518486.2:c.2375C>A	XP_011516788.1:p.Ser792Ter
XM_011518487.1:c.2252C>A	XP_011516789.1:p.Ser751Ter
XM_011518487.2:c.2252C>A	XP_011516789.1:p.Ser751Ter
XM_011518488.1:c.2135C>A	XP_011516790.1:p.Ser712Ter
XM_011518488.2:c.2135C>A	XP_011516790.1:p.Ser712Ter
XM_011518495.1:c.1055C>A	XP_011516797.1:p.Ser352Ter
XR_929747.1:n.3282C>A
XR_929747.2:n.2593C>A
XR_929748.1:n.3180C>A
XR_929748.2:n.2491C>A