Canonical Allele Identifier: CA2691371985

Gene: WHRN

Linked Data

• gnomAD v4: 9-114403090-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114403090G>A , CM000671.2:g.114403090G>A	GRCh38
NC_000009.11:g.117165370G>A , CM000671.1:g.117165370G>A	GRCh37
NC_000009.10:g.116205191G>A	NCBI36
NG_016700.1:g.107367C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.885+127C>T	ENSP00000514396.1:n.885+127C>T
ENST00000362057.4:c.2541+127C>T MANE Select	ENSP00000354623.3:n.2541+127C>T
ENST00000674036.8:c.1514+127C>T
ENST00000674048.1:n.2422+127C>T
ENST00000265134.10:c.1392+127C>T	ENSP00000265134.6:n.1392+127C>T
ENST00000362057.3:c.2541+127C>T	ENSP00000354623.3:n.2541+127C>T
ENST00000374059.7:c.1488+127C>T	ENSP00000363172.3:n.1488+127C>T
NM_001083885.2:c.1392+127C>T	NP_001077354.2:n.1392+127C>T
NM_001173425.1:c.2538+127C>T	NP_001166896.1:n.2538+127C>T
NM_015404.3:c.2541+127C>T	NP_056219.3:n.2541+127C>T
XM_005251897.3:c.1878+127C>T	XP_005251954.2:n.1878+127C>T
XM_011518484.1:c.2574+127C>T	XP_011516786.1:n.2574+127C>T
XM_011518485.1:c.2574+127C>T	XP_011516787.1:n.2574+127C>T
XM_011518486.1:c.2571+127C>T	XP_011516788.1:n.2571+127C>T
XM_011518487.1:c.2448+127C>T	XP_011516789.1:n.2448+127C>T
XM_011518488.1:c.2331+127C>T	XP_011516790.1:n.2331+127C>T
XM_011518495.1:c.1251+127C>T	XP_011516797.1:n.1251+127C>T
XR_929747.1:n.3478+127C>T
XR_929748.1:n.3376+127C>T
NM_001346890.1:c.1488+127C>T	NP_001333819.1:n.1488+127C>T
XM_011518486.2:c.2571+127C>T	XP_011516788.1:n.2571+127C>T
XM_011518487.2:c.2448+127C>T	XP_011516789.1:n.2448+127C>T
XM_011518488.2:c.2331+127C>T	XP_011516790.1:n.2331+127C>T
XR_929747.2:n.2789+127C>T
XR_929748.2:n.2687+127C>T
NM_015404.4:c.2541+127C>T MANE Select	NP_056219.3:n.2541+127C>T
NM_001173425.2:c.2538+127C>T	NP_001166896.1:n.2538+127C>T
NM_001083885.3:c.1392+127C>T	NP_001077354.2:n.1392+127C>T