Canonical Allele Identifier: CA2691372420

Gene: WHRN

Linked Data

• gnomAD v4: 9-114404143-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114404143G>A , CM000671.2:g.114404143G>A	GRCh38
NC_000009.11:g.117166423G>A , CM000671.1:g.117166423G>A	GRCh37
NC_000009.10:g.116206244G>A	NCBI36
NG_016700.1:g.106314C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.581-66C>T	ENSP00000514396.1:n.581-66C>T
ENST00000362057.4:c.2237-66C>T MANE Select	ENSP00000354623.3:n.2237-66C>T
ENST00000674036.8:c.1210-66C>T
ENST00000674048.1:n.2118-66C>T
ENST00000265134.10:c.1088-66C>T	ENSP00000265134.6:n.1088-66C>T
ENST00000362057.3:c.2237-66C>T	ENSP00000354623.3:n.2237-66C>T
ENST00000374059.7:c.1184-66C>T	ENSP00000363172.3:n.1184-66C>T
NM_001083885.2:c.1088-66C>T	NP_001077354.2:n.1088-66C>T
NM_001173425.1:c.2237-69C>T	NP_001166896.1:n.2237-69C>T
NM_015404.3:c.2237-66C>T	NP_056219.3:n.2237-66C>T
XM_005251897.3:c.1574-66C>T	XP_005251954.2:n.1574-66C>T
XM_011518484.1:c.2270-66C>T	XP_011516786.1:n.2270-66C>T
XM_011518485.1:c.2270-66C>T	XP_011516787.1:n.2270-66C>T
XM_011518486.1:c.2270-69C>T	XP_011516788.1:n.2270-69C>T
XM_011518487.1:c.2144-66C>T	XP_011516789.1:n.2144-66C>T
XM_011518488.1:c.2027-66C>T	XP_011516790.1:n.2027-66C>T
XM_011518495.1:c.947-66C>T	XP_011516797.1:n.947-66C>T
XR_929747.1:n.3174-66C>T
XR_929748.1:n.3072-66C>T
NM_001346890.1:c.1184-66C>T	NP_001333819.1:n.1184-66C>T
XM_011518486.2:c.2270-69C>T	XP_011516788.1:n.2270-69C>T
XM_011518487.2:c.2144-66C>T	XP_011516789.1:n.2144-66C>T
XM_011518488.2:c.2027-66C>T	XP_011516790.1:n.2027-66C>T
XR_929747.2:n.2485-66C>T
XR_929748.2:n.2383-66C>T
NM_015404.4:c.2237-66C>T MANE Select	NP_056219.3:n.2237-66C>T
NM_001173425.2:c.2237-69C>T	NP_001166896.1:n.2237-69C>T
NM_001083885.3:c.1088-66C>T	NP_001077354.2:n.1088-66C>T