Canonical Allele Identifier: CA198648782

Gene: WHRN

Linked Data

• ClinVar Variation Id: 1001176
• ClinVar RCV Id: RCV001297430
• dbSNP Id: rs142732176
• gnomAD v3: 9-114402858-C-T
• gnomAD v4: 9-114402858-C-T
• MyVariant Identifiers: chr9:g.117165138C>T (hg19) ; chr9:g.114402858C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114402858C>T , CM000671.2:g.114402858C>T	GRCh38
NC_000009.11:g.117165138C>T , CM000671.1:g.117165138C>T	GRCh37
NC_000009.10:g.116204959C>T	NCBI36
NG_016700.1:g.107599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.964G>A	ENSP00000514396.1:p.Gly322Ser
ENST00000362057.4:c.2620G>A MANE Select	ENSP00000354623.3:p.Gly874Ser
ENST00000674036.8:c.1593G>A
ENST00000674048.1:n.2501G>A
ENST00000265134.10:c.1471G>A	ENSP00000265134.6:p.Gly491Ser
ENST00000362057.3:c.2620G>A	ENSP00000354623.3:p.Gly874Ser
ENST00000374059.7:c.1567G>A	ENSP00000363172.3:p.Gly523Ser
NM_001083885.2:c.1471G>A	NP_001077354.2:p.Gly491Ser
NM_001173425.1:c.2617G>A	NP_001166896.1:p.Gly873Ser
NM_015404.3:c.2620G>A	NP_056219.3:p.Gly874Ser
XM_005251897.3:c.1957G>A	XP_005251954.2:p.Gly653Ser
XM_011518484.1:c.2653G>A	XP_011516786.1:p.Gly885Ser
XM_011518485.1:c.2653G>A	XP_011516787.1:p.Gly885Ser
XM_011518486.1:c.2650G>A	XP_011516788.1:p.Gly884Ser
XM_011518487.1:c.2527G>A	XP_011516789.1:p.Gly843Ser
XM_011518488.1:c.2410G>A	XP_011516790.1:p.Gly804Ser
XM_011518495.1:c.1330G>A	XP_011516797.1:p.Gly444Ser
NM_001346890.1:c.1567G>A	NP_001333819.1:p.Gly523Ser
XM_011518486.2:c.2650G>A	XP_011516788.1:p.Gly884Ser
XM_011518487.2:c.2527G>A	XP_011516789.1:p.Gly843Ser
XM_011518488.2:c.2410G>A	XP_011516790.1:p.Gly804Ser
NM_015404.4:c.2620G>A MANE Select	NP_056219.3:p.Gly874Ser
NM_001173425.2:c.2617G>A	NP_001166896.1:p.Gly873Ser
NM_001083885.3:c.1471G>A	NP_001077354.2:p.Gly491Ser