Canonical Allele Identifier: CA5205680

Gene: WHRN

Linked Data

• ClinVar Variation Id: 364681
• ClinVar RCV Id: RCV001535510 ; RCV001850930
• dbSNP Id: rs768714315
• ExAC: 9:117166333 G / A
• gnomAD v2: 9-117166333-G-A
• gnomAD v3: 9-114404053-G-A
• gnomAD v4: 9-114404053-G-A
• MyVariant Identifiers: chr9:g.117166333G>A (hg19) ; chr9:g.114404053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114404053G>A , CM000671.2:g.114404053G>A	GRCh38
NC_000009.11:g.117166333G>A , CM000671.1:g.117166333G>A	GRCh37
NC_000009.10:g.116206154G>A	NCBI36
NG_016700.1:g.106404C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.605C>T	ENSP00000514396.1:p.Ser202Leu
ENST00000362057.4:c.2261C>T MANE Select	ENSP00000354623.3:p.Ser754Leu
ENST00000674036.8:c.1234C>T
ENST00000674048.1:n.2142C>T
ENST00000265134.10:c.1112C>T	ENSP00000265134.6:p.Ser371Leu
ENST00000362057.3:c.2261C>T	ENSP00000354623.3:p.Ser754Leu
ENST00000374059.7:c.1208C>T	ENSP00000363172.3:p.Ser403Leu
NM_001083885.2:c.1112C>T	NP_001077354.2:p.Ser371Leu
NM_001173425.1:c.2258C>T	NP_001166896.1:p.Ser753Leu
NM_015404.3:c.2261C>T	NP_056219.3:p.Ser754Leu
XM_005251897.3:c.1598C>T	XP_005251954.2:p.Ser533Leu
XM_011518484.1:c.2294C>T	XP_011516786.1:p.Ser765Leu
XM_011518485.1:c.2294C>T	XP_011516787.1:p.Ser765Leu
XM_011518486.1:c.2291C>T	XP_011516788.1:p.Ser764Leu
XM_011518487.1:c.2168C>T	XP_011516789.1:p.Ser723Leu
XM_011518488.1:c.2051C>T	XP_011516790.1:p.Ser684Leu
XM_011518495.1:c.971C>T	XP_011516797.1:p.Ser324Leu
XR_929747.1:n.3198C>T
XR_929748.1:n.3096C>T
NM_001346890.1:c.1208C>T	NP_001333819.1:p.Ser403Leu
XM_011518486.2:c.2291C>T	XP_011516788.1:p.Ser764Leu
XM_011518487.2:c.2168C>T	XP_011516789.1:p.Ser723Leu
XM_011518488.2:c.2051C>T	XP_011516790.1:p.Ser684Leu
XR_929747.2:n.2509C>T
XR_929748.2:n.2407C>T
NM_015404.4:c.2261C>T MANE Select	NP_056219.3:p.Ser754Leu
NM_001173425.2:c.2258C>T	NP_001166896.1:p.Ser753Leu
NM_001083885.3:c.1112C>T	NP_001077354.2:p.Ser371Leu