Canonical Allele Identifier: CA374621171

Gene: WHRN

Linked Data

• dbSNP Id: rs1835158509
• gnomAD v4: 9-114407980-C-A
• MyVariant Identifiers: chr9:g.117170260C>A (hg19) ; chr9:g.114407980C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407980C>A , CM000671.2:g.114407980C>A	GRCh38
NC_000009.11:g.117170260C>A , CM000671.1:g.117170260C>A	GRCh37
NC_000009.10:g.116210081C>A	NCBI36
NG_016700.1:g.102477G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.1665G>T MANE Select	ENSP00000354623.3:p.Gln555His
ENST00000673811.1:n.2389G>T
ENST00000674036.8:c.638G>T
ENST00000674048.1:n.1546G>T
ENST00000265134.10:c.516G>T	ENSP00000265134.6:p.Gln172His
ENST00000362057.3:c.1665G>T	ENSP00000354623.3:p.Gln555His
ENST00000374059.7:c.612G>T	ENSP00000363172.3:p.Gln204His
NM_001083885.2:c.516G>T	NP_001077354.2:p.Gln172His
NM_001173425.1:c.1665G>T	NP_001166896.1:p.Gln555His
NM_015404.3:c.1665G>T	NP_056219.3:p.Gln555His
XM_005251897.3:c.1002G>T	XP_005251954.2:p.Gln334His
XM_011518484.1:c.1698G>T	XP_011516786.1:p.Gln566His
XM_011518485.1:c.1698G>T	XP_011516787.1:p.Gln566His
XM_011518486.1:c.1698G>T	XP_011516788.1:p.Gln566His
XM_011518487.1:c.1572G>T	XP_011516789.1:p.Gln524His
XM_011518488.1:c.1455G>T	XP_011516790.1:p.Gln485His
XM_011518492.1:c.*50G>T	XP_011516794.1:n.*50G>T
XM_011518495.1:c.375G>T	XP_011516797.1:p.Gln125His
XR_929747.1:n.2602G>T
XR_929748.1:n.2500G>T
XR_929750.1:n.2601G>T
XR_929751.1:n.2508G>T
XR_929757.1:n.2475G>T
NM_001346890.1:c.612G>T	NP_001333819.1:p.Gln204His
XM_011518486.2:c.1698G>T	XP_011516788.1:p.Gln566His
XM_011518487.2:c.1572G>T	XP_011516789.1:p.Gln524His
XM_011518488.2:c.1455G>T	XP_011516790.1:p.Gln485His
XM_011518492.2:c.*50G>T	XP_011516794.1:n.*50G>T
XR_929747.2:n.1913G>T
XR_929748.2:n.1811G>T
XR_929750.3:n.1912G>T
XR_929757.2:n.1786G>T
NM_015404.4:c.1665G>T MANE Select	NP_056219.3:p.Gln555His
NM_001173425.2:c.1665G>T	NP_001166896.1:p.Gln555His
NM_001083885.3:c.516G>T	NP_001077354.2:p.Gln172His