Canonical Allele Identifier: CA374618861

Gene: WHRN

Linked Data

• gnomAD v4: 9-114402818-G-A
• MyVariant Identifiers: chr9:g.117165098G>A (hg19) ; chr9:g.114402818G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114402818G>A , CM000671.2:g.114402818G>A	GRCh38
NC_000009.11:g.117165098G>A , CM000671.1:g.117165098G>A	GRCh37
NC_000009.10:g.116204919G>A	NCBI36
NG_016700.1:g.107639C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.1004C>T	ENSP00000514396.1:p.Ala335Val
ENST00000362057.4:c.2660C>T MANE Select	ENSP00000354623.3:p.Ala887Val
ENST00000674036.8:c.1633C>T
ENST00000674048.1:n.2541C>T
ENST00000265134.10:c.1511C>T	ENSP00000265134.6:p.Ala504Val
ENST00000362057.3:c.2660C>T	ENSP00000354623.3:p.Ala887Val
ENST00000374059.7:c.1607C>T	ENSP00000363172.3:p.Ala536Val
NM_001083885.2:c.1511C>T	NP_001077354.2:p.Ala504Val
NM_001173425.1:c.2657C>T	NP_001166896.1:p.Ala886Val
NM_015404.3:c.2660C>T	NP_056219.3:p.Ala887Val
XM_005251897.3:c.1997C>T	XP_005251954.2:p.Ala666Val
XM_011518484.1:c.2693C>T	XP_011516786.1:p.Ala898Val
XM_011518485.1:c.2693C>T	XP_011516787.1:p.Ala898Val
XM_011518486.1:c.2690C>T	XP_011516788.1:p.Ala897Val
XM_011518487.1:c.2567C>T	XP_011516789.1:p.Ala856Val
XM_011518488.1:c.2450C>T	XP_011516790.1:p.Ala817Val
XM_011518495.1:c.1370C>T	XP_011516797.1:p.Ala457Val
NM_001346890.1:c.1607C>T	NP_001333819.1:p.Ala536Val
XM_011518486.2:c.2690C>T	XP_011516788.1:p.Ala897Val
XM_011518487.2:c.2567C>T	XP_011516789.1:p.Ala856Val
XM_011518488.2:c.2450C>T	XP_011516790.1:p.Ala817Val
NM_015404.4:c.2660C>T MANE Select	NP_056219.3:p.Ala887Val
NM_001173425.2:c.2657C>T	NP_001166896.1:p.Ala886Val
NM_001083885.3:c.1511C>T	NP_001077354.2:p.Ala504Val