Canonical Allele Identifier: CA374619946

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117166328T>A (hg19) ; chr9:g.114404048T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114404048T>A , CM000671.2:g.114404048T>A	GRCh38
NC_000009.11:g.117166328T>A , CM000671.1:g.117166328T>A	GRCh37
NC_000009.10:g.116206149T>A	NCBI36
NG_016700.1:g.106409A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.610A>T	ENSP00000514396.1:p.Ser204Cys
ENST00000362057.4:c.2266A>T MANE Select	ENSP00000354623.3:p.Ser756Cys
ENST00000674036.8:c.1239A>T
ENST00000674048.1:n.2147A>T
ENST00000265134.10:c.1117A>T	ENSP00000265134.6:p.Ser373Cys
ENST00000362057.3:c.2266A>T	ENSP00000354623.3:p.Ser756Cys
ENST00000374059.7:c.1213A>T	ENSP00000363172.3:p.Ser405Cys
NM_001083885.2:c.1117A>T	NP_001077354.2:p.Ser373Cys
NM_001173425.1:c.2263A>T	NP_001166896.1:p.Ser755Cys
NM_015404.3:c.2266A>T	NP_056219.3:p.Ser756Cys
XM_005251897.3:c.1603A>T	XP_005251954.2:p.Ser535Cys
XM_011518484.1:c.2299A>T	XP_011516786.1:p.Ser767Cys
XM_011518485.1:c.2299A>T	XP_011516787.1:p.Ser767Cys
XM_011518486.1:c.2296A>T	XP_011516788.1:p.Ser766Cys
XM_011518487.1:c.2173A>T	XP_011516789.1:p.Ser725Cys
XM_011518488.1:c.2056A>T	XP_011516790.1:p.Ser686Cys
XM_011518495.1:c.976A>T	XP_011516797.1:p.Ser326Cys
XR_929747.1:n.3203A>T
XR_929748.1:n.3101A>T
NM_001346890.1:c.1213A>T	NP_001333819.1:p.Ser405Cys
XM_011518486.2:c.2296A>T	XP_011516788.1:p.Ser766Cys
XM_011518487.2:c.2173A>T	XP_011516789.1:p.Ser725Cys
XM_011518488.2:c.2056A>T	XP_011516790.1:p.Ser686Cys
XR_929747.2:n.2514A>T
XR_929748.2:n.2412A>T
NM_015404.4:c.2266A>T MANE Select	NP_056219.3:p.Ser756Cys
NM_001173425.2:c.2263A>T	NP_001166896.1:p.Ser755Cys
NM_001083885.3:c.1117A>T	NP_001077354.2:p.Ser373Cys