Canonical Allele Identifier: CA374620328

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117168785C>T (hg19) ; chr9:g.114406505C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114406505C>T , CM000671.2:g.114406505C>T	GRCh38
NC_000009.11:g.117168785C>T , CM000671.1:g.117168785C>T	GRCh37
NC_000009.10:g.116208606C>T	NCBI36
NG_016700.1:g.103952G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699485.1:c.430G>A	ENSP00000514396.1:p.Ala144Thr
ENST00000362057.4:c.2086G>A MANE Select	ENSP00000354623.3:p.Ala696Thr
ENST00000674036.8:c.1059G>A
ENST00000674048.1:n.1967G>A
ENST00000265134.10:c.937G>A	ENSP00000265134.6:p.Ala313Thr
ENST00000362057.3:c.2086G>A	ENSP00000354623.3:p.Ala696Thr
ENST00000374059.7:c.1033G>A	ENSP00000363172.3:p.Ala345Thr
NM_001083885.2:c.937G>A	NP_001077354.2:p.Ala313Thr
NM_001173425.1:c.2086G>A	NP_001166896.1:p.Ala696Thr
NM_015404.3:c.2086G>A	NP_056219.3:p.Ala696Thr
XM_005251897.3:c.1423G>A	XP_005251954.2:p.Ala475Thr
XM_011518484.1:c.2119G>A	XP_011516786.1:p.Ala707Thr
XM_011518485.1:c.2119G>A	XP_011516787.1:p.Ala707Thr
XM_011518486.1:c.2119G>A	XP_011516788.1:p.Ala707Thr
XM_011518487.1:c.1993G>A	XP_011516789.1:p.Ala665Thr
XM_011518488.1:c.1876G>A	XP_011516790.1:p.Ala626Thr
XM_011518495.1:c.796G>A	XP_011516797.1:p.Ala266Thr
XR_929747.1:n.3023G>A
XR_929748.1:n.2921G>A
NM_001346890.1:c.1033G>A	NP_001333819.1:p.Ala345Thr
XM_011518486.2:c.2119G>A	XP_011516788.1:p.Ala707Thr
XM_011518487.2:c.1993G>A	XP_011516789.1:p.Ala665Thr
XM_011518488.2:c.1876G>A	XP_011516790.1:p.Ala626Thr
XR_929747.2:n.2334G>A
XR_929748.2:n.2232G>A
NM_015404.4:c.2086G>A MANE Select	NP_056219.3:p.Ala696Thr
NM_001173425.2:c.2086G>A	NP_001166896.1:p.Ala696Thr
NM_001083885.3:c.937G>A	NP_001077354.2:p.Ala313Thr