Canonical Allele Identifier: CA374619941

Gene: WHRN

Linked Data

• gnomAD v4: 9-114404046-G-T
• MyVariant Identifiers: chr9:g.117166326G>T (hg19) ; chr9:g.114404046G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114404046G>T , CM000671.2:g.114404046G>T	GRCh38
NC_000009.11:g.117166326G>T , CM000671.1:g.117166326G>T	GRCh37
NC_000009.10:g.116206147G>T	NCBI36
NG_016700.1:g.106411C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.612C>A	ENSP00000514396.1:p.Ser204Arg
ENST00000362057.4:c.2268C>A MANE Select	ENSP00000354623.3:p.Ser756Arg
ENST00000674036.8:c.1241C>A
ENST00000674048.1:n.2149C>A
ENST00000265134.10:c.1119C>A	ENSP00000265134.6:p.Ser373Arg
ENST00000362057.3:c.2268C>A	ENSP00000354623.3:p.Ser756Arg
ENST00000374059.7:c.1215C>A	ENSP00000363172.3:p.Ser405Arg
NM_001083885.2:c.1119C>A	NP_001077354.2:p.Ser373Arg
NM_001173425.1:c.2265C>A	NP_001166896.1:p.Ser755Arg
NM_015404.3:c.2268C>A	NP_056219.3:p.Ser756Arg
XM_005251897.3:c.1605C>A	XP_005251954.2:p.Ser535Arg
XM_011518484.1:c.2301C>A	XP_011516786.1:p.Ser767Arg
XM_011518485.1:c.2301C>A	XP_011516787.1:p.Ser767Arg
XM_011518486.1:c.2298C>A	XP_011516788.1:p.Ser766Arg
XM_011518487.1:c.2175C>A	XP_011516789.1:p.Ser725Arg
XM_011518488.1:c.2058C>A	XP_011516790.1:p.Ser686Arg
XM_011518495.1:c.978C>A	XP_011516797.1:p.Ser326Arg
XR_929747.1:n.3205C>A
XR_929748.1:n.3103C>A
NM_001346890.1:c.1215C>A	NP_001333819.1:p.Ser405Arg
XM_011518486.2:c.2298C>A	XP_011516788.1:p.Ser766Arg
XM_011518487.2:c.2175C>A	XP_011516789.1:p.Ser725Arg
XM_011518488.2:c.2058C>A	XP_011516790.1:p.Ser686Arg
XR_929747.2:n.2516C>A
XR_929748.2:n.2414C>A
NM_015404.4:c.2268C>A MANE Select	NP_056219.3:p.Ser756Arg
NM_001173425.2:c.2265C>A	NP_001166896.1:p.Ser755Arg
NM_001083885.3:c.1119C>A	NP_001077354.2:p.Ser373Arg