Canonical Allele Identifier: CA2691371943

Gene: WHRN

Linked Data

• gnomAD v4: 9-114403049-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114403049C>A , CM000671.2:g.114403049C>A	GRCh38
NC_000009.11:g.117165329C>A , CM000671.1:g.117165329C>A	GRCh37
NC_000009.10:g.116205150C>A	NCBI36
NG_016700.1:g.107408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.886-113G>T	ENSP00000514396.1:n.886-113G>T
ENST00000362057.4:c.2542-113G>T MANE Select	ENSP00000354623.3:n.2542-113G>T
ENST00000674036.8:c.1515-113G>T
ENST00000674048.1:n.2423-113G>T
ENST00000265134.10:c.1393-113G>T	ENSP00000265134.6:n.1393-113G>T
ENST00000362057.3:c.2542-113G>T	ENSP00000354623.3:n.2542-113G>T
ENST00000374059.7:c.1489-113G>T	ENSP00000363172.3:n.1489-113G>T
NM_001083885.2:c.1393-113G>T	NP_001077354.2:n.1393-113G>T
NM_001173425.1:c.2539-113G>T	NP_001166896.1:n.2539-113G>T
NM_015404.3:c.2542-113G>T	NP_056219.3:n.2542-113G>T
XM_005251897.3:c.1879-113G>T	XP_005251954.2:n.1879-113G>T
XM_011518484.1:c.2575-113G>T	XP_011516786.1:n.2575-113G>T
XM_011518485.1:c.2575-113G>T	XP_011516787.1:n.2575-113G>T
XM_011518486.1:c.2572-113G>T	XP_011516788.1:n.2572-113G>T
XM_011518487.1:c.2449-113G>T	XP_011516789.1:n.2449-113G>T
XM_011518488.1:c.2332-113G>T	XP_011516790.1:n.2332-113G>T
XM_011518495.1:c.1252-113G>T	XP_011516797.1:n.1252-113G>T
XR_929747.1:n.3479-113G>T
XR_929748.1:n.3377-113G>T
NM_001346890.1:c.1489-113G>T	NP_001333819.1:n.1489-113G>T
XM_011518486.2:c.2572-113G>T	XP_011516788.1:n.2572-113G>T
XM_011518487.2:c.2449-113G>T	XP_011516789.1:n.2449-113G>T
XM_011518488.2:c.2332-113G>T	XP_011516790.1:n.2332-113G>T
XR_929747.2:n.2790-113G>T
XR_929748.2:n.2688-113G>T
NM_015404.4:c.2542-113G>T MANE Select	NP_056219.3:n.2542-113G>T
NM_001173425.2:c.2539-113G>T	NP_001166896.1:n.2539-113G>T
NM_001083885.3:c.1393-113G>T	NP_001077354.2:n.1393-113G>T