Canonical Allele Identifier: CA374621221

Gene: WHRN

Linked Data

• MyVariant Identifiers: chr9:g.117170285A>C (hg19) ; chr9:g.114408005A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114408005A>C , CM000671.2:g.114408005A>C	GRCh38
NC_000009.11:g.117170285A>C , CM000671.1:g.117170285A>C	GRCh37
NC_000009.10:g.116210106A>C	NCBI36
NG_016700.1:g.102452T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362057.4:c.1640T>G MANE Select	ENSP00000354623.3:p.Leu547Arg
ENST00000673811.1:n.2364T>G
ENST00000674036.8:c.613T>G
ENST00000674048.1:n.1521T>G
ENST00000265134.10:c.491T>G	ENSP00000265134.6:p.Leu164Arg
ENST00000362057.3:c.1640T>G	ENSP00000354623.3:p.Leu547Arg
ENST00000374059.7:c.587T>G	ENSP00000363172.3:p.Leu196Arg
NM_001083885.2:c.491T>G	NP_001077354.2:p.Leu164Arg
NM_001173425.1:c.1640T>G	NP_001166896.1:p.Leu547Arg
NM_015404.3:c.1640T>G	NP_056219.3:p.Leu547Arg
XM_005251897.3:c.977T>G	XP_005251954.2:p.Leu326Arg
XM_011518484.1:c.1673T>G	XP_011516786.1:p.Leu558Arg
XM_011518485.1:c.1673T>G	XP_011516787.1:p.Leu558Arg
XM_011518486.1:c.1673T>G	XP_011516788.1:p.Leu558Arg
XM_011518487.1:c.1547T>G	XP_011516789.1:p.Leu516Arg
XM_011518488.1:c.1430T>G	XP_011516790.1:p.Leu477Arg
XM_011518492.1:c.*25T>G	XP_011516794.1:n.*25T>G
XM_011518495.1:c.350T>G	XP_011516797.1:p.Leu117Arg
XR_929747.1:n.2577T>G
XR_929748.1:n.2475T>G
XR_929750.1:n.2576T>G
XR_929751.1:n.2483T>G
XR_929757.1:n.2450T>G
NM_001346890.1:c.587T>G	NP_001333819.1:p.Leu196Arg
XM_011518486.2:c.1673T>G	XP_011516788.1:p.Leu558Arg
XM_011518487.2:c.1547T>G	XP_011516789.1:p.Leu516Arg
XM_011518488.2:c.1430T>G	XP_011516790.1:p.Leu477Arg
XM_011518492.2:c.*25T>G	XP_011516794.1:n.*25T>G
XR_929747.2:n.1888T>G
XR_929748.2:n.1786T>G
XR_929750.3:n.1887T>G
XR_929757.2:n.1761T>G
NM_015404.4:c.1640T>G MANE Select	NP_056219.3:p.Leu547Arg
NM_001173425.2:c.1640T>G	NP_001166896.1:p.Leu547Arg
NM_001083885.3:c.491T>G	NP_001077354.2:p.Leu164Arg