Canonical Allele Identifier: CA374621225

Gene: WHRN

Linked Data

• gnomAD v4: 9-114408006-G-T
• MyVariant Identifiers: chr9:g.117170286G>T (hg19) ; chr9:g.114408006G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114408006G>T , CM000671.2:g.114408006G>T	GRCh38
NC_000009.11:g.117170286G>T , CM000671.1:g.117170286G>T	GRCh37
NC_000009.10:g.116210107G>T	NCBI36
NG_016700.1:g.102451C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362057.4:c.1639C>A MANE Select	ENSP00000354623.3:p.Leu547Met
ENST00000673811.1:n.2363C>A
ENST00000674036.8:c.612C>A
ENST00000674048.1:n.1520C>A
ENST00000265134.10:c.490C>A	ENSP00000265134.6:p.Leu164Met
ENST00000362057.3:c.1639C>A	ENSP00000354623.3:p.Leu547Met
ENST00000374059.7:c.586C>A	ENSP00000363172.3:p.Leu196Met
NM_001083885.2:c.490C>A	NP_001077354.2:p.Leu164Met
NM_001173425.1:c.1639C>A	NP_001166896.1:p.Leu547Met
NM_015404.3:c.1639C>A	NP_056219.3:p.Leu547Met
XM_005251897.3:c.976C>A	XP_005251954.2:p.Leu326Met
XM_011518484.1:c.1672C>A	XP_011516786.1:p.Leu558Met
XM_011518485.1:c.1672C>A	XP_011516787.1:p.Leu558Met
XM_011518486.1:c.1672C>A	XP_011516788.1:p.Leu558Met
XM_011518487.1:c.1546C>A	XP_011516789.1:p.Leu516Met
XM_011518488.1:c.1429C>A	XP_011516790.1:p.Leu477Met
XM_011518492.1:c.*24C>A	XP_011516794.1:n.*24C>A
XM_011518495.1:c.349C>A	XP_011516797.1:p.Leu117Met
XR_929747.1:n.2576C>A
XR_929748.1:n.2474C>A
XR_929750.1:n.2575C>A
XR_929751.1:n.2482C>A
XR_929757.1:n.2449C>A
NM_001346890.1:c.586C>A	NP_001333819.1:p.Leu196Met
XM_011518486.2:c.1672C>A	XP_011516788.1:p.Leu558Met
XM_011518487.2:c.1546C>A	XP_011516789.1:p.Leu516Met
XM_011518488.2:c.1429C>A	XP_011516790.1:p.Leu477Met
XM_011518492.2:c.*24C>A	XP_011516794.1:n.*24C>A
XR_929747.2:n.1887C>A
XR_929748.2:n.1785C>A
XR_929750.3:n.1886C>A
XR_929757.2:n.1760C>A
NM_015404.4:c.1639C>A MANE Select	NP_056219.3:p.Leu547Met
NM_001173425.2:c.1639C>A	NP_001166896.1:p.Leu547Met
NM_001083885.3:c.490C>A	NP_001077354.2:p.Leu164Met