Canonical Allele Identifier: CA374621135

Gene: WHRN

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407961G>T , CM000671.2:g.114407961G>T	GRCh38
NC_000009.11:g.117170241G>T , CM000671.1:g.117170241G>T	GRCh37
NC_000009.10:g.116210062G>T	NCBI36
NG_016700.1:g.102496C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362057.4:c.1684C>A MANE Select	ENSP00000354623.3:p.Pro562Thr
ENST00000673811.1:n.2408C>A
ENST00000674036.8:c.657C>A
ENST00000674048.1:n.1565C>A
ENST00000265134.10:c.535C>A	ENSP00000265134.6:p.Pro179Thr
ENST00000362057.3:c.1684C>A	ENSP00000354623.3:p.Pro562Thr
ENST00000374059.7:c.631C>A	ENSP00000363172.3:p.Pro211Thr
NM_001083885.2:c.535C>A	NP_001077354.2:p.Pro179Thr
NM_001173425.1:c.1684C>A	NP_001166896.1:p.Pro562Thr
NM_015404.3:c.1684C>A	NP_056219.3:p.Pro562Thr
XM_005251897.3:c.1021C>A	XP_005251954.2:p.Pro341Thr
XM_011518484.1:c.1717C>A	XP_011516786.1:p.Pro573Thr
XM_011518485.1:c.1717C>A	XP_011516787.1:p.Pro573Thr
XM_011518486.1:c.1717C>A	XP_011516788.1:p.Pro573Thr
XM_011518487.1:c.1591C>A	XP_011516789.1:p.Pro531Thr
XM_011518488.1:c.1474C>A	XP_011516790.1:p.Pro492Thr
XM_011518492.1:c.*69C>A	XP_011516794.1:n.*69C>A
XM_011518495.1:c.394C>A	XP_011516797.1:p.Pro132Thr
XR_929747.1:n.2621C>A
XR_929748.1:n.2519C>A
XR_929750.1:n.2620C>A
XR_929751.1:n.2527C>A
XR_929757.1:n.2494C>A
NM_001346890.1:c.631C>A	NP_001333819.1:p.Pro211Thr
XM_011518486.2:c.1717C>A	XP_011516788.1:p.Pro573Thr
XM_011518487.2:c.1591C>A	XP_011516789.1:p.Pro531Thr
XM_011518488.2:c.1474C>A	XP_011516790.1:p.Pro492Thr
XM_011518492.2:c.*69C>A	XP_011516794.1:n.*69C>A
XR_929747.2:n.1932C>A
XR_929748.2:n.1830C>A
XR_929750.3:n.1931C>A
XR_929757.2:n.1805C>A
NM_015404.4:c.1684C>A MANE Select	NP_056219.3:p.Pro562Thr
NM_001173425.2:c.1684C>A	NP_001166896.1:p.Pro562Thr
NM_001083885.3:c.535C>A	NP_001077354.2:p.Pro179Thr