Canonical Allele Identifier: CA2691343433

Gene: WHRN

Linked Data

• gnomAD v4: 9-114402579-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114402579G>T , CM000671.2:g.114402579G>T	GRCh38
NC_000009.11:g.117164859G>T , CM000671.1:g.117164859G>T	GRCh37
NC_000009.10:g.116204680G>T	NCBI36
NG_016700.1:g.107878C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.1243C>A	ENSP00000514396.1:n.1243C>A
ENST00000362057.4:c.*175C>A MANE Select	ENSP00000354623.3:n.*175C>A
ENST00000674036.8:c.1872C>A
ENST00000674048.1:n.2780C>A
ENST00000265134.10:c.*175C>A	ENSP00000265134.6:n.*175C>A
ENST00000362057.3:c.*175C>A	ENSP00000354623.3:n.*175C>A
ENST00000374059.7:c.*175C>A	ENSP00000363172.3:n.*175C>A
NM_001083885.2:c.*175C>A	NP_001077354.2:n.*175C>A
NM_001173425.1:c.*175C>A	NP_001166896.1:n.*175C>A
NM_015404.3:c.*175C>A	NP_056219.3:n.*175C>A
XM_005251897.3:c.*175C>A	XP_005251954.2:n.*175C>A
XM_011518484.1:c.*175C>A	XP_011516786.1:n.*175C>A
XM_011518485.1:c.*175C>A	XP_011516787.1:n.*175C>A
XM_011518486.1:c.*175C>A	XP_011516788.1:n.*175C>A
XM_011518487.1:c.*175C>A	XP_011516789.1:n.*175C>A
XM_011518488.1:c.*175C>A	XP_011516790.1:n.*175C>A
XM_011518495.1:c.*175C>A	XP_011516797.1:n.*175C>A
NM_001346890.1:c.*175C>A	NP_001333819.1:n.*175C>A
XM_011518486.2:c.*175C>A	XP_011516788.1:n.*175C>A
XM_011518487.2:c.*175C>A	XP_011516789.1:n.*175C>A
XM_011518488.2:c.*175C>A	XP_011516790.1:n.*175C>A
NM_015404.4:c.*175C>A MANE Select	NP_056219.3:n.*175C>A
NM_001173425.2:c.*175C>A	NP_001166896.1:n.*175C>A
NM_001083885.3:c.*175C>A	NP_001077354.2:n.*175C>A