Canonical Allele Identifier: CA466782027

Gene: WHRN

Linked Data

• gnomAD v4: 9-114404073-G-C
• MyVariant Identifiers: chr9:g.117166353G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114404073G>C , CM000671.2:g.114404073G>C	GRCh38
NC_000009.11:g.117166353G>C , CM000671.1:g.117166353G>C	GRCh37
NC_000009.10:g.116206174G>C	NCBI36
NG_016700.1:g.106384C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.585C>G	ENSP00000514396.1:p.Ala195=
ENST00000362057.4:c.2241C>G MANE Select	ENSP00000354623.3:p.Ala747=
ENST00000674036.8:c.1214C>G
ENST00000674048.1:n.2122C>G
ENST00000265134.10:c.1092C>G	ENSP00000265134.6:p.Ala364=
ENST00000362057.3:c.2241C>G	ENSP00000354623.3:p.Ala747=
ENST00000374059.7:c.1188C>G	ENSP00000363172.3:p.Ala396=
NM_001083885.2:c.1092C>G	NP_001077354.2:p.Ala364=
NM_001173425.1:c.2238C>G	NP_001166896.1:p.Thr746=
NM_015404.3:c.2241C>G	NP_056219.3:p.Ala747=
XM_005251897.3:c.1578C>G	XP_005251954.2:p.Ala526=
XM_011518484.1:c.2274C>G	XP_011516786.1:p.Ala758=
XM_011518485.1:c.2274C>G	XP_011516787.1:p.Ala758=
XM_011518486.1:c.2271C>G	XP_011516788.1:p.Thr757=
XM_011518487.1:c.2148C>G	XP_011516789.1:p.Ala716=
XM_011518488.1:c.2031C>G	XP_011516790.1:p.Ala677=
XM_011518495.1:c.951C>G	XP_011516797.1:p.Ala317=
XR_929747.1:n.3178C>G
XR_929748.1:n.3076C>G
NM_001346890.1:c.1188C>G	NP_001333819.1:p.Ala396=
XM_011518486.2:c.2271C>G	XP_011516788.1:p.Thr757=
XM_011518487.2:c.2148C>G	XP_011516789.1:p.Ala716=
XM_011518488.2:c.2031C>G	XP_011516790.1:p.Ala677=
XR_929747.2:n.2489C>G
XR_929748.2:n.2387C>G
NM_015404.4:c.2241C>G MANE Select	NP_056219.3:p.Ala747=
NM_001173425.2:c.2238C>G	NP_001166896.1:p.Thr746=
NM_001083885.3:c.1092C>G	NP_001077354.2:p.Ala364=