Canonical Allele Identifier: CA5205654

Gene: WHRN

Linked Data

• ClinVar Variation Id: 364679
• ClinVar RCV Id: RCV001233964
• dbSNP Id: rs545286422
• ExAC: 9:117166211 G / A
• gnomAD v2: 9-117166211-G-A
• gnomAD v3: 9-114403931-G-A
• gnomAD v4: 9-114403931-G-A
• MyVariant Identifiers: chr9:g.117166211G>A (hg19) ; chr9:g.114403931G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114403931G>A , CM000671.2:g.114403931G>A	GRCh38
NC_000009.11:g.117166211G>A , CM000671.1:g.117166211G>A	GRCh37
NC_000009.10:g.116206032G>A	NCBI36
NG_016700.1:g.106526C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.727C>T	ENSP00000514396.1:p.Arg243Trp
ENST00000362057.4:c.2383C>T MANE Select	ENSP00000354623.3:p.Arg795Trp
ENST00000674036.8:c.1356C>T
ENST00000674048.1:n.2264C>T
ENST00000265134.10:c.1234C>T	ENSP00000265134.6:p.Arg412Trp
ENST00000362057.3:c.2383C>T	ENSP00000354623.3:p.Arg795Trp
ENST00000374059.7:c.1330C>T	ENSP00000363172.3:p.Arg444Trp
NM_001083885.2:c.1234C>T	NP_001077354.2:p.Arg412Trp
NM_001173425.1:c.2380C>T	NP_001166896.1:p.Arg794Trp
NM_015404.3:c.2383C>T	NP_056219.3:p.Arg795Trp
XM_005251897.3:c.1720C>T	XP_005251954.2:p.Arg574Trp
XM_011518484.1:c.2416C>T	XP_011516786.1:p.Arg806Trp
XM_011518485.1:c.2416C>T	XP_011516787.1:p.Arg806Trp
XM_011518486.1:c.2413C>T	XP_011516788.1:p.Arg805Trp
XM_011518487.1:c.2290C>T	XP_011516789.1:p.Arg764Trp
XM_011518488.1:c.2173C>T	XP_011516790.1:p.Arg725Trp
XM_011518495.1:c.1093C>T	XP_011516797.1:p.Arg365Trp
XR_929747.1:n.3320C>T
XR_929748.1:n.3218C>T
NM_001346890.1:c.1330C>T	NP_001333819.1:p.Arg444Trp
XM_011518486.2:c.2413C>T	XP_011516788.1:p.Arg805Trp
XM_011518487.2:c.2290C>T	XP_011516789.1:p.Arg764Trp
XM_011518488.2:c.2173C>T	XP_011516790.1:p.Arg725Trp
XR_929747.2:n.2631C>T
XR_929748.2:n.2529C>T
NM_015404.4:c.2383C>T MANE Select	NP_056219.3:p.Arg795Trp
NM_001173425.2:c.2380C>T	NP_001166896.1:p.Arg794Trp
NM_001083885.3:c.1234C>T	NP_001077354.2:p.Arg412Trp