Canonical Allele Identifier: CA374620150
Gene: WHRN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406422C>A , CM000671.2:g.114406422C>A GRCh38
NC_000009.11:g.117168702C>A , CM000671.1:g.117168702C>A GRCh37
NC_000009.10:g.116208523C>A NCBI36
NG_016700.1:g.104035G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.513G>T ENSP00000514396.1:p.Met171Ile
ENST00000362057.4:c.2169G>T MANE Select ENSP00000354623.3:p.Met723Ile
ENST00000674036.8:c.1142G>T
ENST00000674048.1:n.2050G>T
ENST00000265134.10:c.1020G>T ENSP00000265134.6:p.Met340Ile
ENST00000362057.3:c.2169G>T ENSP00000354623.3:p.Met723Ile
ENST00000374059.7:c.1116G>T ENSP00000363172.3:p.Met372Ile
NM_001083885.2:c.1020G>T NP_001077354.2:p.Met340Ile
NM_001173425.1:c.2169G>T NP_001166896.1:p.Met723Ile
NM_015404.3:c.2169G>T NP_056219.3:p.Met723Ile
XM_005251897.3:c.1506G>T XP_005251954.2:p.Met502Ile
XM_011518484.1:c.2202G>T XP_011516786.1:p.Met734Ile
XM_011518485.1:c.2202G>T XP_011516787.1:p.Met734Ile
XM_011518486.1:c.2202G>T XP_011516788.1:p.Met734Ile
XM_011518487.1:c.2076G>T XP_011516789.1:p.Met692Ile
XM_011518488.1:c.1959G>T XP_011516790.1:p.Met653Ile
XM_011518495.1:c.879G>T XP_011516797.1:p.Met293Ile
XR_929747.1:n.3106G>T
XR_929748.1:n.3004G>T
NM_001346890.1:c.1116G>T NP_001333819.1:p.Met372Ile
XM_011518486.2:c.2202G>T XP_011516788.1:p.Met734Ile
XM_011518487.2:c.2076G>T XP_011516789.1:p.Met692Ile
XM_011518488.2:c.1959G>T XP_011516790.1:p.Met653Ile
XR_929747.2:n.2417G>T
XR_929748.2:n.2315G>T
NM_015404.4:c.2169G>T MANE Select NP_056219.3:p.Met723Ile
NM_001173425.2:c.2169G>T NP_001166896.1:p.Met723Ile
NM_001083885.3:c.1020G>T NP_001077354.2:p.Met340Ile