Canonical Allele Identifier: CA466782133

Gene: WHRN

Linked Data

• COSMIC: COSM4470658 ; COSM4470659
• MyVariant Identifiers: chr9:g.117170251G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407971G>A , CM000671.2:g.114407971G>A	GRCh38
NC_000009.11:g.117170251G>A , CM000671.1:g.117170251G>A	GRCh37
NC_000009.10:g.116210072G>A	NCBI36
NG_016700.1:g.102486C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.1674C>T MANE Select	ENSP00000354623.3:p.Ile558=
ENST00000673811.1:n.2398C>T
ENST00000674036.8:c.647C>T
ENST00000674048.1:n.1555C>T
ENST00000265134.10:c.525C>T	ENSP00000265134.6:p.Ile175=
ENST00000362057.3:c.1674C>T	ENSP00000354623.3:p.Ile558=
ENST00000374059.7:c.621C>T	ENSP00000363172.3:p.Ile207=
NM_001083885.2:c.525C>T	NP_001077354.2:p.Ile175=
NM_001173425.1:c.1674C>T	NP_001166896.1:p.Ile558=
NM_015404.3:c.1674C>T	NP_056219.3:p.Ile558=
XM_005251897.3:c.1011C>T	XP_005251954.2:p.Ile337=
XM_011518484.1:c.1707C>T	XP_011516786.1:p.Ile569=
XM_011518485.1:c.1707C>T	XP_011516787.1:p.Ile569=
XM_011518486.1:c.1707C>T	XP_011516788.1:p.Ile569=
XM_011518487.1:c.1581C>T	XP_011516789.1:p.Ile527=
XM_011518488.1:c.1464C>T	XP_011516790.1:p.Ile488=
XM_011518492.1:c.*59C>T	XP_011516794.1:n.*59C>T
XM_011518495.1:c.384C>T	XP_011516797.1:p.Ile128=
XR_929747.1:n.2611C>T
XR_929748.1:n.2509C>T
XR_929750.1:n.2610C>T
XR_929751.1:n.2517C>T
XR_929757.1:n.2484C>T
NM_001346890.1:c.621C>T	NP_001333819.1:p.Ile207=
XM_011518486.2:c.1707C>T	XP_011516788.1:p.Ile569=
XM_011518487.2:c.1581C>T	XP_011516789.1:p.Ile527=
XM_011518488.2:c.1464C>T	XP_011516790.1:p.Ile488=
XM_011518492.2:c.*59C>T	XP_011516794.1:n.*59C>T
XR_929747.2:n.1922C>T
XR_929748.2:n.1820C>T
XR_929750.3:n.1921C>T
XR_929757.2:n.1795C>T
NM_015404.4:c.1674C>T MANE Select	NP_056219.3:p.Ile558=
NM_001173425.2:c.1674C>T	NP_001166896.1:p.Ile558=
NM_001083885.3:c.525C>T	NP_001077354.2:p.Ile175=