Canonical Allele Identifier: CA374619585

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117166216A>T (hg19) ; chr9:g.114403936A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114403936A>T , CM000671.2:g.114403936A>T	GRCh38
NC_000009.11:g.117166216A>T , CM000671.1:g.117166216A>T	GRCh37
NC_000009.10:g.116206037A>T	NCBI36
NG_016700.1:g.106521T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699485.1:c.722T>A	ENSP00000514396.1:p.Leu241Gln
ENST00000362057.4:c.2378T>A MANE Select	ENSP00000354623.3:p.Leu793Gln
ENST00000674036.8:c.1351T>A
ENST00000674048.1:n.2259T>A
ENST00000265134.10:c.1229T>A	ENSP00000265134.6:p.Leu410Gln
ENST00000362057.3:c.2378T>A	ENSP00000354623.3:p.Leu793Gln
ENST00000374059.7:c.1325T>A	ENSP00000363172.3:p.Leu442Gln
NM_001083885.2:c.1229T>A	NP_001077354.2:p.Leu410Gln
NM_001173425.1:c.2375T>A	NP_001166896.1:p.Leu792Gln
NM_015404.3:c.2378T>A	NP_056219.3:p.Leu793Gln
XM_005251897.3:c.1715T>A	XP_005251954.2:p.Leu572Gln
XM_011518484.1:c.2411T>A	XP_011516786.1:p.Leu804Gln
XM_011518485.1:c.2411T>A	XP_011516787.1:p.Leu804Gln
XM_011518486.1:c.2408T>A	XP_011516788.1:p.Leu803Gln
XM_011518487.1:c.2285T>A	XP_011516789.1:p.Leu762Gln
XM_011518488.1:c.2168T>A	XP_011516790.1:p.Leu723Gln
XM_011518495.1:c.1088T>A	XP_011516797.1:p.Leu363Gln
XR_929747.1:n.3315T>A
XR_929748.1:n.3213T>A
NM_001346890.1:c.1325T>A	NP_001333819.1:p.Leu442Gln
XM_011518486.2:c.2408T>A	XP_011516788.1:p.Leu803Gln
XM_011518487.2:c.2285T>A	XP_011516789.1:p.Leu762Gln
XM_011518488.2:c.2168T>A	XP_011516790.1:p.Leu723Gln
XR_929747.2:n.2626T>A
XR_929748.2:n.2524T>A
NM_015404.4:c.2378T>A MANE Select	NP_056219.3:p.Leu793Gln
NM_001173425.2:c.2375T>A	NP_001166896.1:p.Leu792Gln
NM_001083885.3:c.1229T>A	NP_001077354.2:p.Leu410Gln