Canonical Allele Identifier: CA5205727

Gene: WHRN

Linked Data

• dbSNP Id: rs141823009
• ExAC: 9:117168696 C / A
• gnomAD v2: 9-117168696-C-A
• gnomAD v3: 9-114406416-C-A
• gnomAD v4: 9-114406416-C-A
• MyVariant Identifiers: chr9:g.117168696C>A (hg19) ; chr9:g.114406416C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406416C>A , CM000671.2:g.114406416C>A	GRCh38
NC_000009.11:g.117168696C>A , CM000671.1:g.117168696C>A	GRCh37
NC_000009.10:g.116208517C>A	NCBI36
NG_016700.1:g.104041G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.519G>T	ENSP00000514396.1:p.Glu173Asp
ENST00000362057.4:c.2175G>T MANE Select	ENSP00000354623.3:p.Glu725Asp
ENST00000674036.8:c.1148G>T
ENST00000674048.1:n.2056G>T
ENST00000265134.10:c.1026G>T	ENSP00000265134.6:p.Glu342Asp
ENST00000362057.3:c.2175G>T	ENSP00000354623.3:p.Glu725Asp
ENST00000374059.7:c.1122G>T	ENSP00000363172.3:p.Glu374Asp
NM_001083885.2:c.1026G>T	NP_001077354.2:p.Glu342Asp
NM_001173425.1:c.2175G>T	NP_001166896.1:p.Glu725Asp
NM_015404.3:c.2175G>T	NP_056219.3:p.Glu725Asp
XM_005251897.3:c.1512G>T	XP_005251954.2:p.Glu504Asp
XM_011518484.1:c.2208G>T	XP_011516786.1:p.Glu736Asp
XM_011518485.1:c.2208G>T	XP_011516787.1:p.Glu736Asp
XM_011518486.1:c.2208G>T	XP_011516788.1:p.Glu736Asp
XM_011518487.1:c.2082G>T	XP_011516789.1:p.Glu694Asp
XM_011518488.1:c.1965G>T	XP_011516790.1:p.Glu655Asp
XM_011518495.1:c.885G>T	XP_011516797.1:p.Glu295Asp
XR_929747.1:n.3112G>T
XR_929748.1:n.3010G>T
NM_001346890.1:c.1122G>T	NP_001333819.1:p.Glu374Asp
XM_011518486.2:c.2208G>T	XP_011516788.1:p.Glu736Asp
XM_011518487.2:c.2082G>T	XP_011516789.1:p.Glu694Asp
XM_011518488.2:c.1965G>T	XP_011516790.1:p.Glu655Asp
XR_929747.2:n.2423G>T
XR_929748.2:n.2321G>T
NM_015404.4:c.2175G>T MANE Select	NP_056219.3:p.Glu725Asp
NM_001173425.2:c.2175G>T	NP_001166896.1:p.Glu725Asp
NM_001083885.3:c.1026G>T	NP_001077354.2:p.Glu342Asp