Canonical Allele Identifier: CA374621170

Gene: WHRN

Linked Data

• gnomAD v4: 9-114407979-C-T
• MyVariant Identifiers: chr9:g.117170259C>T (hg19) ; chr9:g.114407979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407979C>T , CM000671.2:g.114407979C>T	GRCh38
NC_000009.11:g.117170259C>T , CM000671.1:g.117170259C>T	GRCh37
NC_000009.10:g.116210080C>T	NCBI36
NG_016700.1:g.102478G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.1666G>A MANE Select	ENSP00000354623.3:p.Gly556Ser
ENST00000673811.1:n.2390G>A
ENST00000674036.8:c.639G>A
ENST00000674048.1:n.1547G>A
ENST00000265134.10:c.517G>A	ENSP00000265134.6:p.Gly173Ser
ENST00000362057.3:c.1666G>A	ENSP00000354623.3:p.Gly556Ser
ENST00000374059.7:c.613G>A	ENSP00000363172.3:p.Gly205Ser
NM_001083885.2:c.517G>A	NP_001077354.2:p.Gly173Ser
NM_001173425.1:c.1666G>A	NP_001166896.1:p.Gly556Ser
NM_015404.3:c.1666G>A	NP_056219.3:p.Gly556Ser
XM_005251897.3:c.1003G>A	XP_005251954.2:p.Gly335Ser
XM_011518484.1:c.1699G>A	XP_011516786.1:p.Gly567Ser
XM_011518485.1:c.1699G>A	XP_011516787.1:p.Gly567Ser
XM_011518486.1:c.1699G>A	XP_011516788.1:p.Gly567Ser
XM_011518487.1:c.1573G>A	XP_011516789.1:p.Gly525Ser
XM_011518488.1:c.1456G>A	XP_011516790.1:p.Gly486Ser
XM_011518492.1:c.*51G>A	XP_011516794.1:n.*51G>A
XM_011518495.1:c.376G>A	XP_011516797.1:p.Gly126Ser
XR_929747.1:n.2603G>A
XR_929748.1:n.2501G>A
XR_929750.1:n.2602G>A
XR_929751.1:n.2509G>A
XR_929757.1:n.2476G>A
NM_001346890.1:c.613G>A	NP_001333819.1:p.Gly205Ser
XM_011518486.2:c.1699G>A	XP_011516788.1:p.Gly567Ser
XM_011518487.2:c.1573G>A	XP_011516789.1:p.Gly525Ser
XM_011518488.2:c.1456G>A	XP_011516790.1:p.Gly486Ser
XM_011518492.2:c.*51G>A	XP_011516794.1:n.*51G>A
XR_929747.2:n.1914G>A
XR_929748.2:n.1812G>A
XR_929750.3:n.1913G>A
XR_929757.2:n.1787G>A
NM_015404.4:c.1666G>A MANE Select	NP_056219.3:p.Gly556Ser
NM_001173425.2:c.1666G>A	NP_001166896.1:p.Gly556Ser
NM_001083885.3:c.517G>A	NP_001077354.2:p.Gly173Ser