Canonical Allele Identifier: CA374620321

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117168782T>A (hg19) ; chr9:g.114406502T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406502T>A , CM000671.2:g.114406502T>A	GRCh38
NC_000009.11:g.117168782T>A , CM000671.1:g.117168782T>A	GRCh37
NC_000009.10:g.116208603T>A	NCBI36
NG_016700.1:g.103955A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.433A>T	ENSP00000514396.1:p.Thr145Ser
ENST00000362057.4:c.2089A>T MANE Select	ENSP00000354623.3:p.Thr697Ser
ENST00000674036.8:c.1062A>T
ENST00000674048.1:n.1970A>T
ENST00000265134.10:c.940A>T	ENSP00000265134.6:p.Thr314Ser
ENST00000362057.3:c.2089A>T	ENSP00000354623.3:p.Thr697Ser
ENST00000374059.7:c.1036A>T	ENSP00000363172.3:p.Thr346Ser
NM_001083885.2:c.940A>T	NP_001077354.2:p.Thr314Ser
NM_001173425.1:c.2089A>T	NP_001166896.1:p.Thr697Ser
NM_015404.3:c.2089A>T	NP_056219.3:p.Thr697Ser
XM_005251897.3:c.1426A>T	XP_005251954.2:p.Thr476Ser
XM_011518484.1:c.2122A>T	XP_011516786.1:p.Thr708Ser
XM_011518485.1:c.2122A>T	XP_011516787.1:p.Thr708Ser
XM_011518486.1:c.2122A>T	XP_011516788.1:p.Thr708Ser
XM_011518487.1:c.1996A>T	XP_011516789.1:p.Thr666Ser
XM_011518488.1:c.1879A>T	XP_011516790.1:p.Thr627Ser
XM_011518495.1:c.799A>T	XP_011516797.1:p.Thr267Ser
XR_929747.1:n.3026A>T
XR_929748.1:n.2924A>T
NM_001346890.1:c.1036A>T	NP_001333819.1:p.Thr346Ser
XM_011518486.2:c.2122A>T	XP_011516788.1:p.Thr708Ser
XM_011518487.2:c.1996A>T	XP_011516789.1:p.Thr666Ser
XM_011518488.2:c.1879A>T	XP_011516790.1:p.Thr627Ser
XR_929747.2:n.2337A>T
XR_929748.2:n.2235A>T
NM_015404.4:c.2089A>T MANE Select	NP_056219.3:p.Thr697Ser
NM_001173425.2:c.2089A>T	NP_001166896.1:p.Thr697Ser
NM_001083885.3:c.940A>T	NP_001077354.2:p.Thr314Ser