Canonical Allele Identifier: CA374620217

Gene: WHRN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406451G>A , CM000671.2:g.114406451G>A	GRCh38
NC_000009.11:g.117168731G>A , CM000671.1:g.117168731G>A	GRCh37
NC_000009.10:g.116208552G>A	NCBI36
NG_016700.1:g.104006C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015404.4:c.2140C>T MANE Select	NP_056219.3:p.Gln714Ter
ENST00000362057.4:c.2140C>T MANE Select	ENSP00000354623.3:p.Gln714Ter
NM_001083885.2:c.991C>T	NP_001077354.2:p.Gln331Ter
NM_001083885.3:c.991C>T	NP_001077354.2:p.Gln331Ter
NM_001173425.1:c.2140C>T	NP_001166896.1:p.Gln714Ter
NM_001173425.2:c.2140C>T	NP_001166896.1:p.Gln714Ter
NM_001346890.1:c.1087C>T	NP_001333819.1:p.Gln363Ter
NM_015404.3:c.2140C>T	NP_056219.3:p.Gln714Ter
ENST00000265134.10:c.991C>T	ENSP00000265134.6:p.Gln331Ter
ENST00000362057.3:c.2140C>T	ENSP00000354623.3:p.Gln714Ter
ENST00000374059.7:c.1087C>T	ENSP00000363172.3:p.Gln363Ter
ENST00000674036.8:c.1113C>T
ENST00000674048.1:n.2021C>T
ENST00000699485.1:c.484C>T	ENSP00000514396.1:p.Gln162Ter
XM_005251897.3:c.1477C>T	XP_005251954.2:p.Gln493Ter
XM_011518484.1:c.2173C>T	XP_011516786.1:p.Gln725Ter
XM_011518485.1:c.2173C>T	XP_011516787.1:p.Gln725Ter
XM_011518486.1:c.2173C>T	XP_011516788.1:p.Gln725Ter
XM_011518486.2:c.2173C>T	XP_011516788.1:p.Gln725Ter
XM_011518487.1:c.2047C>T	XP_011516789.1:p.Gln683Ter
XM_011518487.2:c.2047C>T	XP_011516789.1:p.Gln683Ter
XM_011518488.1:c.1930C>T	XP_011516790.1:p.Gln644Ter
XM_011518488.2:c.1930C>T	XP_011516790.1:p.Gln644Ter
XM_011518495.1:c.850C>T	XP_011516797.1:p.Gln284Ter
XR_929747.1:n.3077C>T
XR_929747.2:n.2388C>T
XR_929748.1:n.2975C>T
XR_929748.2:n.2286C>T