Canonical Allele Identifier: CA374618946
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114402863A>G , CM000671.2:g.114402863A>G GRCh38
NC_000009.11:g.117165143A>G , CM000671.1:g.117165143A>G GRCh37
NC_000009.10:g.116204964A>G NCBI36
NG_016700.1:g.107594T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000699485.1:c.959T>C ENSP00000514396.1:p.Leu320Pro
ENST00000362057.4:c.2615T>C MANE Select ENSP00000354623.3:p.Leu872Pro
ENST00000674036.8:c.1588T>C
ENST00000674048.1:n.2496T>C
ENST00000265134.10:c.1466T>C ENSP00000265134.6:p.Leu489Pro
ENST00000362057.3:c.2615T>C ENSP00000354623.3:p.Leu872Pro
ENST00000374059.7:c.1562T>C ENSP00000363172.3:p.Leu521Pro
NM_001083885.2:c.1466T>C NP_001077354.2:p.Leu489Pro
NM_001173425.1:c.2612T>C NP_001166896.1:p.Leu871Pro
NM_015404.3:c.2615T>C NP_056219.3:p.Leu872Pro
XM_005251897.3:c.1952T>C XP_005251954.2:p.Leu651Pro
XM_011518484.1:c.2648T>C XP_011516786.1:p.Leu883Pro
XM_011518485.1:c.2648T>C XP_011516787.1:p.Leu883Pro
XM_011518486.1:c.2645T>C XP_011516788.1:p.Leu882Pro
XM_011518487.1:c.2522T>C XP_011516789.1:p.Leu841Pro
XM_011518488.1:c.2405T>C XP_011516790.1:p.Leu802Pro
XM_011518495.1:c.1325T>C XP_011516797.1:p.Leu442Pro
NM_001346890.1:c.1562T>C NP_001333819.1:p.Leu521Pro
XM_011518486.2:c.2645T>C XP_011516788.1:p.Leu882Pro
XM_011518487.2:c.2522T>C XP_011516789.1:p.Leu841Pro
XM_011518488.2:c.2405T>C XP_011516790.1:p.Leu802Pro
NM_015404.4:c.2615T>C MANE Select NP_056219.3:p.Leu872Pro
NM_001173425.2:c.2612T>C NP_001166896.1:p.Leu871Pro
NM_001083885.3:c.1466T>C NP_001077354.2:p.Leu489Pro