Canonical Allele Identifier: CA185551

Gene: WHRN

Linked Data

• ClinVar Variation Id: 179975
• ClinVar RCV Id: RCV000156778 ; RCV002492601 ; RCV003660765
• dbSNP Id: rs727505255
• gnomAD v4: 9-114402756-A-G
• MyVariant Identifiers: chr9:g.117165036A>G (hg19) ; chr9:g.114402756A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114402756A>G , CM000671.2:g.114402756A>G	GRCh38
NC_000009.11:g.117165036A>G , CM000671.1:g.117165036A>G	GRCh37
NC_000009.10:g.116204857A>G	NCBI36
NG_016700.1:g.107701T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.1066T>C	ENSP00000514396.1:p.Ter356Gln
ENST00000362057.4:c.2722T>C MANE Select	ENSP00000354623.3:p.Ter908Gln
ENST00000674036.8:c.1695T>C
ENST00000674048.1:n.2603T>C
ENST00000265134.10:c.1573T>C	ENSP00000265134.6:p.Ter525Gln
ENST00000362057.3:c.2722T>C	ENSP00000354623.3:p.Ter908Gln
ENST00000374059.7:c.1669T>C	ENSP00000363172.3:p.Ter557Gln
NM_001083885.2:c.1573T>C	NP_001077354.2:p.Ter525Gln
NM_001173425.1:c.2719T>C	NP_001166896.1:p.Ter907Gln
NM_015404.3:c.2722T>C	NP_056219.3:p.Ter908Gln
XM_005251897.3:c.2059T>C	XP_005251954.2:p.Ter687Gln
XM_011518484.1:c.2755T>C	XP_011516786.1:p.Ter919Gln
XM_011518485.1:c.2755T>C	XP_011516787.1:p.Ter919Gln
XM_011518486.1:c.2752T>C	XP_011516788.1:p.Ter918Gln
XM_011518487.1:c.2629T>C	XP_011516789.1:p.Ter877Gln
XM_011518488.1:c.2512T>C	XP_011516790.1:p.Ter838Gln
XM_011518495.1:c.1432T>C	XP_011516797.1:p.Ter478Gln
NM_001346890.1:c.1669T>C	NP_001333819.1:p.Ter557Gln
XM_011518486.2:c.2752T>C	XP_011516788.1:p.Ter918Gln
XM_011518487.2:c.2629T>C	XP_011516789.1:p.Ter877Gln
XM_011518488.2:c.2512T>C	XP_011516790.1:p.Ter838Gln
NM_015404.4:c.2722T>C MANE Select	NP_056219.3:p.Ter908Gln
NM_001173425.2:c.2719T>C	NP_001166896.1:p.Ter907Gln
NM_001083885.3:c.1573T>C	NP_001077354.2:p.Ter525Gln