Canonical Allele Identifier: CA374618937

Gene: WHRN

Linked Data

• gnomAD v4: 9-114402855-T-C
• MyVariant Identifiers: chr9:g.117165135T>C (hg19) ; chr9:g.114402855T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114402855T>C , CM000671.2:g.114402855T>C	GRCh38
NC_000009.11:g.117165135T>C , CM000671.1:g.117165135T>C	GRCh37
NC_000009.10:g.116204956T>C	NCBI36
NG_016700.1:g.107602A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.967A>G	ENSP00000514396.1:p.Lys323Glu
ENST00000362057.4:c.2623A>G MANE Select	ENSP00000354623.3:p.Lys875Glu
ENST00000674036.8:c.1596A>G
ENST00000674048.1:n.2504A>G
ENST00000265134.10:c.1474A>G	ENSP00000265134.6:p.Lys492Glu
ENST00000362057.3:c.2623A>G	ENSP00000354623.3:p.Lys875Glu
ENST00000374059.7:c.1570A>G	ENSP00000363172.3:p.Lys524Glu
NM_001083885.2:c.1474A>G	NP_001077354.2:p.Lys492Glu
NM_001173425.1:c.2620A>G	NP_001166896.1:p.Lys874Glu
NM_015404.3:c.2623A>G	NP_056219.3:p.Lys875Glu
XM_005251897.3:c.1960A>G	XP_005251954.2:p.Lys654Glu
XM_011518484.1:c.2656A>G	XP_011516786.1:p.Lys886Glu
XM_011518485.1:c.2656A>G	XP_011516787.1:p.Lys886Glu
XM_011518486.1:c.2653A>G	XP_011516788.1:p.Lys885Glu
XM_011518487.1:c.2530A>G	XP_011516789.1:p.Lys844Glu
XM_011518488.1:c.2413A>G	XP_011516790.1:p.Lys805Glu
XM_011518495.1:c.1333A>G	XP_011516797.1:p.Lys445Glu
NM_001346890.1:c.1570A>G	NP_001333819.1:p.Lys524Glu
XM_011518486.2:c.2653A>G	XP_011516788.1:p.Lys885Glu
XM_011518487.2:c.2530A>G	XP_011516789.1:p.Lys844Glu
XM_011518488.2:c.2413A>G	XP_011516790.1:p.Lys805Glu
NM_015404.4:c.2623A>G MANE Select	NP_056219.3:p.Lys875Glu
NM_001173425.2:c.2620A>G	NP_001166896.1:p.Lys874Glu
NM_001083885.3:c.1474A>G	NP_001077354.2:p.Lys492Glu