Canonical Allele Identifier: CA466911641
Gene: WHRN HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.117168789T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.114406509T>G , CM000671.2:g.114406509T>G GRCh38
NC_000009.11:g.117168789T>G , CM000671.1:g.117168789T>G GRCh37
NC_000009.10:g.116208610T>G NCBI36
NG_016700.1:g.103948A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000699485.1:c.426A>C ENSP00000514396.1:p.Ala142=
ENST00000362057.4:c.2082A>C MANE Select ENSP00000354623.3:p.Ala694=
ENST00000674036.8:c.1055A>C
ENST00000674048.1:n.1963A>C
ENST00000265134.10:c.933A>C ENSP00000265134.6:p.Ala311=
ENST00000362057.3:c.2082A>C ENSP00000354623.3:p.Ala694=
ENST00000374059.7:c.1029A>C ENSP00000363172.3:p.Ala343=
NM_001083885.2:c.933A>C NP_001077354.2:p.Ala311=
NM_001173425.1:c.2082A>C NP_001166896.1:p.Ala694=
NM_015404.3:c.2082A>C NP_056219.3:p.Ala694=
XM_005251897.3:c.1419A>C XP_005251954.2:p.Ala473=
XM_011518484.1:c.2115A>C XP_011516786.1:p.Ala705=
XM_011518485.1:c.2115A>C XP_011516787.1:p.Ala705=
XM_011518486.1:c.2115A>C XP_011516788.1:p.Ala705=
XM_011518487.1:c.1989A>C XP_011516789.1:p.Ala663=
XM_011518488.1:c.1872A>C XP_011516790.1:p.Ala624=
XM_011518495.1:c.792A>C XP_011516797.1:p.Ala264=
XR_929747.1:n.3019A>C
XR_929748.1:n.2917A>C
NM_001346890.1:c.1029A>C NP_001333819.1:p.Ala343=
XM_011518486.2:c.2115A>C XP_011516788.1:p.Ala705=
XM_011518487.2:c.1989A>C XP_011516789.1:p.Ala663=
XM_011518488.2:c.1872A>C XP_011516790.1:p.Ala624=
XR_929747.2:n.2330A>C
XR_929748.2:n.2228A>C
NM_015404.4:c.2082A>C MANE Select NP_056219.3:p.Ala694=
NM_001173425.2:c.2082A>C NP_001166896.1:p.Ala694=
NM_001083885.3:c.933A>C NP_001077354.2:p.Ala311=