Canonical Allele Identifier: CA374619967

Gene: WHRN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114404058C>A , CM000671.2:g.114404058C>A	GRCh38
NG_016700.1:g.106399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.600G>T	ENSP00000514396.1:p.Gln200His
ENST00000362057.4:c.2256G>T MANE Select	ENSP00000354623.3:p.Gln752His
ENST00000674036.8:c.1229G>T
ENST00000674048.1:n.2137G>T
ENST00000265134.10:c.1107G>T	ENSP00000265134.6:p.Gln369His
ENST00000362057.3:c.2256G>T	ENSP00000354623.3:p.Gln752His
ENST00000374059.7:c.1203G>T	ENSP00000363172.3:p.Gln401His
NM_001083885.2:c.1107G>T	NP_001077354.2:p.Gln369His
NM_001173425.1:c.2253G>T	NP_001166896.1:p.Gln751His
NM_015404.3:c.2256G>T	NP_056219.3:p.Gln752His
XM_005251897.3:c.1593G>T	XP_005251954.2:p.Gln531His
XM_011518484.1:c.2289G>T	XP_011516786.1:p.Gln763His
XM_011518485.1:c.2289G>T	XP_011516787.1:p.Gln763His
XM_011518486.1:c.2286G>T	XP_011516788.1:p.Gln762His
XM_011518487.1:c.2163G>T	XP_011516789.1:p.Gln721His
XM_011518488.1:c.2046G>T	XP_011516790.1:p.Gln682His
XM_011518495.1:c.966G>T	XP_011516797.1:p.Gln322His
XR_929747.1:n.3193G>T
XR_929748.1:n.3091G>T
NM_001346890.1:c.1203G>T	NP_001333819.1:p.Gln401His
XM_011518486.2:c.2286G>T	XP_011516788.1:p.Gln762His
XM_011518487.2:c.2163G>T	XP_011516789.1:p.Gln721His
XM_011518488.2:c.2046G>T	XP_011516790.1:p.Gln682His
XR_929747.2:n.2504G>T
XR_929748.2:n.2402G>T
NM_015404.4:c.2256G>T MANE Select	NP_056219.3:p.Gln752His
NM_001173425.2:c.2253G>T	NP_001166896.1:p.Gln751His
NM_001083885.3:c.1107G>T	NP_001077354.2:p.Gln369His