Canonical Allele Identifier: CA2691372317
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114403831C>A , CM000671.2:g.114403831C>A GRCh38
NC_000009.11:g.117166111C>A , CM000671.1:g.117166111C>A GRCh37
NC_000009.10:g.116205932C>A NCBI36
NG_016700.1:g.106626G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.762+65G>T ENSP00000514396.1:n.762+65G>T
ENST00000362057.4:c.2418+65G>T MANE Select ENSP00000354623.3:n.2418+65G>T
ENST00000674036.8:c.1391+65G>T
ENST00000674048.1:n.2299+65G>T
ENST00000265134.10:c.1269+65G>T ENSP00000265134.6:n.1269+65G>T
ENST00000362057.3:c.2418+65G>T ENSP00000354623.3:n.2418+65G>T
ENST00000374059.7:c.1365+65G>T ENSP00000363172.3:n.1365+65G>T
NM_001083885.2:c.1269+65G>T NP_001077354.2:n.1269+65G>T
NM_001173425.1:c.2415+65G>T NP_001166896.1:n.2415+65G>T
NM_015404.3:c.2418+65G>T NP_056219.3:n.2418+65G>T
XM_005251897.3:c.1755+65G>T XP_005251954.2:n.1755+65G>T
XM_011518484.1:c.2451+65G>T XP_011516786.1:n.2451+65G>T
XM_011518485.1:c.2451+65G>T XP_011516787.1:n.2451+65G>T
XM_011518486.1:c.2448+65G>T XP_011516788.1:n.2448+65G>T
XM_011518487.1:c.2325+65G>T XP_011516789.1:n.2325+65G>T
XM_011518488.1:c.2208+65G>T XP_011516790.1:n.2208+65G>T
XM_011518495.1:c.1128+65G>T XP_011516797.1:n.1128+65G>T
XR_929747.1:n.3355+65G>T
XR_929748.1:n.3253+65G>T
NM_001346890.1:c.1365+65G>T NP_001333819.1:n.1365+65G>T
XM_011518486.2:c.2448+65G>T XP_011516788.1:n.2448+65G>T
XM_011518487.2:c.2325+65G>T XP_011516789.1:n.2325+65G>T
XM_011518488.2:c.2208+65G>T XP_011516790.1:n.2208+65G>T
XR_929747.2:n.2666+65G>T
XR_929748.2:n.2564+65G>T
NM_015404.4:c.2418+65G>T MANE Select NP_056219.3:n.2418+65G>T
NM_001173425.2:c.2415+65G>T NP_001166896.1:n.2415+65G>T
NM_001083885.3:c.1269+65G>T NP_001077354.2:n.1269+65G>T