Canonical Allele Identifier: CA374619945

Gene: WHRN

Linked Data

• gnomAD v4: 9-114404047-C-T
• MyVariant Identifiers: chr9:g.117166327C>T (hg19) ; chr9:g.114404047C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114404047C>T , CM000671.2:g.114404047C>T	GRCh38
NC_000009.11:g.117166327C>T , CM000671.1:g.117166327C>T	GRCh37
NC_000009.10:g.116206148C>T	NCBI36
NG_016700.1:g.106410G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.611G>A	ENSP00000514396.1:p.Ser204Asn
ENST00000362057.4:c.2267G>A MANE Select	ENSP00000354623.3:p.Ser756Asn
ENST00000674036.8:c.1240G>A
ENST00000674048.1:n.2148G>A
ENST00000265134.10:c.1118G>A	ENSP00000265134.6:p.Ser373Asn
ENST00000362057.3:c.2267G>A	ENSP00000354623.3:p.Ser756Asn
ENST00000374059.7:c.1214G>A	ENSP00000363172.3:p.Ser405Asn
NM_001083885.2:c.1118G>A	NP_001077354.2:p.Ser373Asn
NM_001173425.1:c.2264G>A	NP_001166896.1:p.Ser755Asn
NM_015404.3:c.2267G>A	NP_056219.3:p.Ser756Asn
XM_005251897.3:c.1604G>A	XP_005251954.2:p.Ser535Asn
XM_011518484.1:c.2300G>A	XP_011516786.1:p.Ser767Asn
XM_011518485.1:c.2300G>A	XP_011516787.1:p.Ser767Asn
XM_011518486.1:c.2297G>A	XP_011516788.1:p.Ser766Asn
XM_011518487.1:c.2174G>A	XP_011516789.1:p.Ser725Asn
XM_011518488.1:c.2057G>A	XP_011516790.1:p.Ser686Asn
XM_011518495.1:c.977G>A	XP_011516797.1:p.Ser326Asn
XR_929747.1:n.3204G>A
XR_929748.1:n.3102G>A
NM_001346890.1:c.1214G>A	NP_001333819.1:p.Ser405Asn
XM_011518486.2:c.2297G>A	XP_011516788.1:p.Ser766Asn
XM_011518487.2:c.2174G>A	XP_011516789.1:p.Ser725Asn
XM_011518488.2:c.2057G>A	XP_011516790.1:p.Ser686Asn
XR_929747.2:n.2515G>A
XR_929748.2:n.2413G>A
NM_015404.4:c.2267G>A MANE Select	NP_056219.3:p.Ser756Asn
NM_001173425.2:c.2264G>A	NP_001166896.1:p.Ser755Asn
NM_001083885.3:c.1118G>A	NP_001077354.2:p.Ser373Asn