Canonical Allele Identifier: CA374618734
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114402760C>A , CM000671.2:g.114402760C>A GRCh38
NC_000009.11:g.117165040C>A , CM000671.1:g.117165040C>A GRCh37
NC_000009.10:g.116204861C>A NCBI36
NG_016700.1:g.107697G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.1062G>T ENSP00000514396.1:p.Met354Ile
ENST00000362057.4:c.2718G>T MANE Select ENSP00000354623.3:p.Met906Ile
ENST00000674036.8:c.1691G>T
ENST00000674048.1:n.2599G>T
ENST00000265134.10:c.1569G>T ENSP00000265134.6:p.Met523Ile
ENST00000362057.3:c.2718G>T ENSP00000354623.3:p.Met906Ile
ENST00000374059.7:c.1665G>T ENSP00000363172.3:p.Met555Ile
NM_001083885.2:c.1569G>T NP_001077354.2:p.Met523Ile
NM_001173425.1:c.2715G>T NP_001166896.1:p.Met905Ile
NM_015404.3:c.2718G>T NP_056219.3:p.Met906Ile
XM_005251897.3:c.2055G>T XP_005251954.2:p.Met685Ile
XM_011518484.1:c.2751G>T XP_011516786.1:p.Met917Ile
XM_011518485.1:c.2751G>T XP_011516787.1:p.Met917Ile
XM_011518486.1:c.2748G>T XP_011516788.1:p.Met916Ile
XM_011518487.1:c.2625G>T XP_011516789.1:p.Met875Ile
XM_011518488.1:c.2508G>T XP_011516790.1:p.Met836Ile
XM_011518495.1:c.1428G>T XP_011516797.1:p.Met476Ile
NM_001346890.1:c.1665G>T NP_001333819.1:p.Met555Ile
XM_011518486.2:c.2748G>T XP_011516788.1:p.Met916Ile
XM_011518487.2:c.2625G>T XP_011516789.1:p.Met875Ile
XM_011518488.2:c.2508G>T XP_011516790.1:p.Met836Ile
NM_015404.4:c.2718G>T MANE Select NP_056219.3:p.Met906Ile
NM_001173425.2:c.2715G>T NP_001166896.1:p.Met905Ile
NM_001083885.3:c.1569G>T NP_001077354.2:p.Met523Ile