Canonical Allele Identifier: CA374620338

Gene: WHRN

Linked Data

• dbSNP Id: rs1835038760
• gnomAD v4: 9-114406510-G-A
• MyVariant Identifiers: chr9:g.117168790G>A (hg19) ; chr9:g.114406510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406510G>A , CM000671.2:g.114406510G>A	GRCh38
NC_000009.11:g.117168790G>A , CM000671.1:g.117168790G>A	GRCh37
NC_000009.10:g.116208611G>A	NCBI36
NG_016700.1:g.103947C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.425C>T	ENSP00000514396.1:p.Ala142Val
ENST00000362057.4:c.2081C>T MANE Select	ENSP00000354623.3:p.Ala694Val
ENST00000674036.8:c.1054C>T
ENST00000674048.1:n.1962C>T
ENST00000265134.10:c.932C>T	ENSP00000265134.6:p.Ala311Val
ENST00000362057.3:c.2081C>T	ENSP00000354623.3:p.Ala694Val
ENST00000374059.7:c.1028C>T	ENSP00000363172.3:p.Ala343Val
NM_001083885.2:c.932C>T	NP_001077354.2:p.Ala311Val
NM_001173425.1:c.2081C>T	NP_001166896.1:p.Ala694Val
NM_015404.3:c.2081C>T	NP_056219.3:p.Ala694Val
XM_005251897.3:c.1418C>T	XP_005251954.2:p.Ala473Val
XM_011518484.1:c.2114C>T	XP_011516786.1:p.Ala705Val
XM_011518485.1:c.2114C>T	XP_011516787.1:p.Ala705Val
XM_011518486.1:c.2114C>T	XP_011516788.1:p.Ala705Val
XM_011518487.1:c.1988C>T	XP_011516789.1:p.Ala663Val
XM_011518488.1:c.1871C>T	XP_011516790.1:p.Ala624Val
XM_011518495.1:c.791C>T	XP_011516797.1:p.Ala264Val
XR_929747.1:n.3018C>T
XR_929748.1:n.2916C>T
NM_001346890.1:c.1028C>T	NP_001333819.1:p.Ala343Val
XM_011518486.2:c.2114C>T	XP_011516788.1:p.Ala705Val
XM_011518487.2:c.1988C>T	XP_011516789.1:p.Ala663Val
XM_011518488.2:c.1871C>T	XP_011516790.1:p.Ala624Val
XR_929747.2:n.2329C>T
XR_929748.2:n.2227C>T
NM_015404.4:c.2081C>T MANE Select	NP_056219.3:p.Ala694Val
NM_001173425.2:c.2081C>T	NP_001166896.1:p.Ala694Val
NM_001083885.3:c.932C>T	NP_001077354.2:p.Ala311Val