Canonical Allele Identifier: CA198648773

Gene: WHRN

Linked Data

• dbSNP Id: rs550276189
• gnomAD v2: 9-117165126-G-A
• gnomAD v3: 9-114402846-G-A
• gnomAD v4: 9-114402846-G-A
• MyVariant Identifiers: chr9:g.117165126G>A (hg19) ; chr9:g.114402846G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114402846G>A , CM000671.2:g.114402846G>A	GRCh38
NC_000009.11:g.117165126G>A , CM000671.1:g.117165126G>A	GRCh37
NC_000009.10:g.116204947G>A	NCBI36
NG_016700.1:g.107611C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.976C>T	ENSP00000514396.1:p.Arg326Trp
ENST00000362057.4:c.2632C>T MANE Select	ENSP00000354623.3:p.Arg878Trp
ENST00000674036.8:c.1605C>T
ENST00000674048.1:n.2513C>T
ENST00000265134.10:c.1483C>T	ENSP00000265134.6:p.Arg495Trp
ENST00000362057.3:c.2632C>T	ENSP00000354623.3:p.Arg878Trp
ENST00000374059.7:c.1579C>T	ENSP00000363172.3:p.Arg527Trp
NM_001083885.2:c.1483C>T	NP_001077354.2:p.Arg495Trp
NM_001173425.1:c.2629C>T	NP_001166896.1:p.Arg877Trp
NM_015404.3:c.2632C>T	NP_056219.3:p.Arg878Trp
XM_005251897.3:c.1969C>T	XP_005251954.2:p.Arg657Trp
XM_011518484.1:c.2665C>T	XP_011516786.1:p.Arg889Trp
XM_011518485.1:c.2665C>T	XP_011516787.1:p.Arg889Trp
XM_011518486.1:c.2662C>T	XP_011516788.1:p.Arg888Trp
XM_011518487.1:c.2539C>T	XP_011516789.1:p.Arg847Trp
XM_011518488.1:c.2422C>T	XP_011516790.1:p.Arg808Trp
XM_011518495.1:c.1342C>T	XP_011516797.1:p.Arg448Trp
NM_001346890.1:c.1579C>T	NP_001333819.1:p.Arg527Trp
XM_011518486.2:c.2662C>T	XP_011516788.1:p.Arg888Trp
XM_011518487.2:c.2539C>T	XP_011516789.1:p.Arg847Trp
XM_011518488.2:c.2422C>T	XP_011516790.1:p.Arg808Trp
NM_015404.4:c.2632C>T MANE Select	NP_056219.3:p.Arg878Trp
NM_001173425.2:c.2629C>T	NP_001166896.1:p.Arg877Trp
NM_001083885.3:c.1483C>T	NP_001077354.2:p.Arg495Trp