Canonical Allele Identifier: CA374620337

Gene: WHRN

Linked Data

• gnomAD v4: 9-114406508-C-T
• MyVariant Identifiers: chr9:g.117168788C>T (hg19) ; chr9:g.114406508C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406508C>T , CM000671.2:g.114406508C>T	GRCh38
NC_000009.11:g.117168788C>T , CM000671.1:g.117168788C>T	GRCh37
NC_000009.10:g.116208609C>T	NCBI36
NG_016700.1:g.103949G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.427G>A	ENSP00000514396.1:p.Glu143Lys
ENST00000362057.4:c.2083G>A MANE Select	ENSP00000354623.3:p.Glu695Lys
ENST00000674036.8:c.1056G>A
ENST00000674048.1:n.1964G>A
ENST00000265134.10:c.934G>A	ENSP00000265134.6:p.Glu312Lys
ENST00000362057.3:c.2083G>A	ENSP00000354623.3:p.Glu695Lys
ENST00000374059.7:c.1030G>A	ENSP00000363172.3:p.Glu344Lys
NM_001083885.2:c.934G>A	NP_001077354.2:p.Glu312Lys
NM_001173425.1:c.2083G>A	NP_001166896.1:p.Glu695Lys
NM_015404.3:c.2083G>A	NP_056219.3:p.Glu695Lys
XM_005251897.3:c.1420G>A	XP_005251954.2:p.Glu474Lys
XM_011518484.1:c.2116G>A	XP_011516786.1:p.Glu706Lys
XM_011518485.1:c.2116G>A	XP_011516787.1:p.Glu706Lys
XM_011518486.1:c.2116G>A	XP_011516788.1:p.Glu706Lys
XM_011518487.1:c.1990G>A	XP_011516789.1:p.Glu664Lys
XM_011518488.1:c.1873G>A	XP_011516790.1:p.Glu625Lys
XM_011518495.1:c.793G>A	XP_011516797.1:p.Glu265Lys
XR_929747.1:n.3020G>A
XR_929748.1:n.2918G>A
NM_001346890.1:c.1030G>A	NP_001333819.1:p.Glu344Lys
XM_011518486.2:c.2116G>A	XP_011516788.1:p.Glu706Lys
XM_011518487.2:c.1990G>A	XP_011516789.1:p.Glu664Lys
XM_011518488.2:c.1873G>A	XP_011516790.1:p.Glu625Lys
XR_929747.2:n.2331G>A
XR_929748.2:n.2229G>A
NM_015404.4:c.2083G>A MANE Select	NP_056219.3:p.Glu695Lys
NM_001173425.2:c.2083G>A	NP_001166896.1:p.Glu695Lys
NM_001083885.3:c.934G>A	NP_001077354.2:p.Glu312Lys