Canonical Allele Identifier: CA2691372324

Gene: WHRN

Linked Data

• gnomAD v4: 9-114403841-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114403841G>T , CM000671.2:g.114403841G>T	GRCh38
NC_000009.11:g.117166121G>T , CM000671.1:g.117166121G>T	GRCh37
NC_000009.10:g.116205942G>T	NCBI36
NG_016700.1:g.106616C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.762+55C>A	ENSP00000514396.1:n.762+55C>A
ENST00000362057.4:c.2418+55C>A MANE Select	ENSP00000354623.3:n.2418+55C>A
ENST00000674036.8:c.1391+55C>A
ENST00000674048.1:n.2299+55C>A
ENST00000265134.10:c.1269+55C>A	ENSP00000265134.6:n.1269+55C>A
ENST00000362057.3:c.2418+55C>A	ENSP00000354623.3:n.2418+55C>A
ENST00000374059.7:c.1365+55C>A	ENSP00000363172.3:n.1365+55C>A
NM_001083885.2:c.1269+55C>A	NP_001077354.2:n.1269+55C>A
NM_001173425.1:c.2415+55C>A	NP_001166896.1:n.2415+55C>A
NM_015404.3:c.2418+55C>A	NP_056219.3:n.2418+55C>A
XM_005251897.3:c.1755+55C>A	XP_005251954.2:n.1755+55C>A
XM_011518484.1:c.2451+55C>A	XP_011516786.1:n.2451+55C>A
XM_011518485.1:c.2451+55C>A	XP_011516787.1:n.2451+55C>A
XM_011518486.1:c.2448+55C>A	XP_011516788.1:n.2448+55C>A
XM_011518487.1:c.2325+55C>A	XP_011516789.1:n.2325+55C>A
XM_011518488.1:c.2208+55C>A	XP_011516790.1:n.2208+55C>A
XM_011518495.1:c.1128+55C>A	XP_011516797.1:n.1128+55C>A
XR_929747.1:n.3355+55C>A
XR_929748.1:n.3253+55C>A
NM_001346890.1:c.1365+55C>A	NP_001333819.1:n.1365+55C>A
XM_011518486.2:c.2448+55C>A	XP_011516788.1:n.2448+55C>A
XM_011518487.2:c.2325+55C>A	XP_011516789.1:n.2325+55C>A
XM_011518488.2:c.2208+55C>A	XP_011516790.1:n.2208+55C>A
XR_929747.2:n.2666+55C>A
XR_929748.2:n.2564+55C>A
NM_015404.4:c.2418+55C>A MANE Select	NP_056219.3:n.2418+55C>A
NM_001173425.2:c.2415+55C>A	NP_001166896.1:n.2415+55C>A
NM_001083885.3:c.1269+55C>A	NP_001077354.2:n.1269+55C>A