Canonical Allele Identifier: CA466911458

Gene: WHRN

Linked Data

• gnomAD v4: 9-114406416-C-T
• MyVariant Identifiers: chr9:g.117168696C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.519G>A	ENSP00000514396.1:p.Glu173=
ENST00000362057.4:c.2175G>A MANE Select	ENSP00000354623.3:p.Glu725=
ENST00000674036.8:c.1148G>A
ENST00000674048.1:n.2056G>A
ENST00000265134.10:c.1026G>A	ENSP00000265134.6:p.Glu342=
ENST00000362057.3:c.2175G>A	ENSP00000354623.3:p.Glu725=
ENST00000374059.7:c.1122G>A	ENSP00000363172.3:p.Glu374=
NM_001083885.2:c.1026G>A	NP_001077354.2:p.Glu342=
NM_001173425.1:c.2175G>A	NP_001166896.1:p.Glu725=
NM_015404.3:c.2175G>A	NP_056219.3:p.Glu725=
XM_005251897.3:c.1512G>A	XP_005251954.2:p.Glu504=
XM_011518484.1:c.2208G>A	XP_011516786.1:p.Glu736=
XM_011518485.1:c.2208G>A	XP_011516787.1:p.Glu736=
XM_011518486.1:c.2208G>A	XP_011516788.1:p.Glu736=
XM_011518487.1:c.2082G>A	XP_011516789.1:p.Glu694=
XM_011518488.1:c.1965G>A	XP_011516790.1:p.Glu655=
XM_011518495.1:c.885G>A	XP_011516797.1:p.Glu295=
XR_929747.1:n.3112G>A
XR_929748.1:n.3010G>A
NM_001346890.1:c.1122G>A	NP_001333819.1:p.Glu374=
XM_011518486.2:c.2208G>A	XP_011516788.1:p.Glu736=
XM_011518487.2:c.2082G>A	XP_011516789.1:p.Glu694=
XM_011518488.2:c.1965G>A	XP_011516790.1:p.Glu655=
XR_929747.2:n.2423G>A
XR_929748.2:n.2321G>A
NM_015404.4:c.2175G>A MANE Select	NP_056219.3:p.Glu725=
NM_001173425.2:c.2175G>A	NP_001166896.1:p.Glu725=
NM_001083885.3:c.1026G>A	NP_001077354.2:p.Glu342=