Canonical Allele Identifier: CA374610143

Gene: WHRN

Linked Data

• gnomAD v4: 9-114426262-G-T
• MyVariant Identifiers: chr9:g.117188542G>T (hg19) ; chr9:g.114426262G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114426262G>T , CM000671.2:g.114426262G>T	GRCh38
NC_000009.11:g.117188542G>T , CM000671.1:g.117188542G>T	GRCh37
NC_000009.10:g.116228363G>T	NCBI36
NG_016700.1:g.84195C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699486.1:c.839C>A	ENSP00000514397.1:p.Thr280Asn
ENST00000362057.4:c.1115C>A MANE Select	ENSP00000354623.3:p.Thr372Asn
ENST00000673811.1:n.863C>A
ENST00000674036.8:c.298C>A
ENST00000265134.10:c.-35C>A	ENSP00000265134.6:n.-35C>A
ENST00000362057.3:c.1115C>A	ENSP00000354623.3:p.Thr372Asn
NM_001083885.2:c.-35C>A	NP_001077354.2:n.-35C>A
NM_001173425.1:c.1115C>A	NP_001166896.1:p.Thr372Asn
NM_015404.3:c.1115C>A	NP_056219.3:p.Thr372Asn
XM_005251897.3:c.964-18244C>A	XP_005251954.2:n.964-18244C>A
XM_011518484.1:c.1115C>A	XP_011516786.1:p.Thr372Asn
XM_011518485.1:c.1115C>A	XP_011516787.1:p.Thr372Asn
XM_011518486.1:c.1115C>A	XP_011516788.1:p.Thr372Asn
XM_011518487.1:c.989C>A	XP_011516789.1:p.Thr330Asn
XM_011518488.1:c.1115C>A	XP_011516790.1:p.Thr372Asn
XM_011518489.1:c.1115C>A	XP_011516791.1:p.Thr372Asn
XM_011518490.1:c.1115C>A	XP_011516792.1:p.Thr372Asn
XM_011518491.1:c.1115C>A	XP_011516793.1:p.Thr372Asn
XM_011518492.1:c.1115C>A	XP_011516794.1:p.Thr372Asn
XM_011518493.1:c.1115C>A	XP_011516795.1:p.Thr372Asn
XM_011518494.1:c.1115C>A	XP_011516796.1:p.Thr372Asn
XM_011518495.1:c.-157-1238C>A	XP_011516797.1:n.-157-1238C>A
XR_929747.1:n.1823C>A
XR_929748.1:n.1823C>A
XR_929749.1:n.1823C>A
XR_929750.1:n.1823C>A
XR_929751.1:n.1823C>A
XR_929752.1:n.1823C>A
XR_929753.1:n.1823C>A
XR_929754.1:n.1823C>A
XR_929755.1:n.1823C>A
XR_929756.1:n.1823C>A
XR_929757.1:n.1823C>A
XM_011518486.2:c.1115C>A	XP_011516788.1:p.Thr372Asn
XM_011518487.2:c.989C>A	XP_011516789.1:p.Thr330Asn
XM_011518488.2:c.1115C>A	XP_011516790.1:p.Thr372Asn
XM_011518489.3:c.1115C>A	XP_011516791.1:p.Thr372Asn
XM_011518491.3:c.1115C>A	XP_011516793.1:p.Thr372Asn
XM_011518492.2:c.1115C>A	XP_011516794.1:p.Thr372Asn
XM_011518494.3:c.1115C>A	XP_011516796.1:p.Thr372Asn
XR_929747.2:n.1134C>A
XR_929748.2:n.1134C>A
XR_929749.2:n.1134C>A
XR_929750.3:n.1134C>A
XR_929752.2:n.1134C>A
XR_929753.3:n.1134C>A
XR_929754.2:n.1134C>A
XR_929755.3:n.1134C>A
XR_929756.2:n.1134C>A
XR_929757.2:n.1134C>A
NM_015404.4:c.1115C>A MANE Select	NP_056219.3:p.Thr372Asn
NM_001173425.2:c.1115C>A	NP_001166896.1:p.Thr372Asn
NM_001083885.3:c.-35C>A	NP_001077354.2:n.-35C>A