Canonical Allele Identifier: CA374619987

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117166351G>A (hg19) ; chr9:g.114404071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114404071G>A , CM000671.2:g.114404071G>A	GRCh38
NC_000009.11:g.117166351G>A , CM000671.1:g.117166351G>A	GRCh37
NC_000009.10:g.116206172G>A	NCBI36
NG_016700.1:g.106386C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.587C>T	ENSP00000514396.1:p.Ser196Phe
ENST00000362057.4:c.2243C>T MANE Select	ENSP00000354623.3:p.Ser748Phe
ENST00000674036.8:c.1216C>T
ENST00000674048.1:n.2124C>T
ENST00000265134.10:c.1094C>T	ENSP00000265134.6:p.Ser365Phe
ENST00000362057.3:c.2243C>T	ENSP00000354623.3:p.Ser748Phe
ENST00000374059.7:c.1190C>T	ENSP00000363172.3:p.Ser397Phe
NM_001083885.2:c.1094C>T	NP_001077354.2:p.Ser365Phe
NM_001173425.1:c.2240C>T	NP_001166896.1:p.Ser747Phe
NM_015404.3:c.2243C>T	NP_056219.3:p.Ser748Phe
XM_005251897.3:c.1580C>T	XP_005251954.2:p.Ser527Phe
XM_011518484.1:c.2276C>T	XP_011516786.1:p.Ser759Phe
XM_011518485.1:c.2276C>T	XP_011516787.1:p.Ser759Phe
XM_011518486.1:c.2273C>T	XP_011516788.1:p.Ser758Phe
XM_011518487.1:c.2150C>T	XP_011516789.1:p.Ser717Phe
XM_011518488.1:c.2033C>T	XP_011516790.1:p.Ser678Phe
XM_011518495.1:c.953C>T	XP_011516797.1:p.Ser318Phe
XR_929747.1:n.3180C>T
XR_929748.1:n.3078C>T
NM_001346890.1:c.1190C>T	NP_001333819.1:p.Ser397Phe
XM_011518486.2:c.2273C>T	XP_011516788.1:p.Ser758Phe
XM_011518487.2:c.2150C>T	XP_011516789.1:p.Ser717Phe
XM_011518488.2:c.2033C>T	XP_011516790.1:p.Ser678Phe
XR_929747.2:n.2491C>T
XR_929748.2:n.2389C>T
NM_015404.4:c.2243C>T MANE Select	NP_056219.3:p.Ser748Phe
NM_001173425.2:c.2240C>T	NP_001166896.1:p.Ser747Phe
NM_001083885.3:c.1094C>T	NP_001077354.2:p.Ser365Phe