Canonical Allele Identifier: CA374621184

Gene: WHRN

Linked Data

• dbSNP Id: rs1835158679
• gnomAD v3: 9-114407985-C-T
• gnomAD v4: 9-114407985-C-T
• MyVariant Identifiers: chr9:g.117170265C>T (hg19) ; chr9:g.114407985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407985C>T , CM000671.2:g.114407985C>T	GRCh38
NC_000009.11:g.117170265C>T , CM000671.1:g.117170265C>T	GRCh37
NC_000009.10:g.116210086C>T	NCBI36
NG_016700.1:g.102472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362057.4:c.1660G>A MANE Select	ENSP00000354623.3:p.Val554Ile
ENST00000673811.1:n.2384G>A
ENST00000674036.8:c.633G>A
ENST00000674048.1:n.1541G>A
ENST00000265134.10:c.511G>A	ENSP00000265134.6:p.Val171Ile
ENST00000362057.3:c.1660G>A	ENSP00000354623.3:p.Val554Ile
ENST00000374059.7:c.607G>A	ENSP00000363172.3:p.Val203Ile
NM_001083885.2:c.511G>A	NP_001077354.2:p.Val171Ile
NM_001173425.1:c.1660G>A	NP_001166896.1:p.Val554Ile
NM_015404.3:c.1660G>A	NP_056219.3:p.Val554Ile
XM_005251897.3:c.997G>A	XP_005251954.2:p.Val333Ile
XM_011518484.1:c.1693G>A	XP_011516786.1:p.Val565Ile
XM_011518485.1:c.1693G>A	XP_011516787.1:p.Val565Ile
XM_011518486.1:c.1693G>A	XP_011516788.1:p.Val565Ile
XM_011518487.1:c.1567G>A	XP_011516789.1:p.Val523Ile
XM_011518488.1:c.1450G>A	XP_011516790.1:p.Val484Ile
XM_011518492.1:c.*45G>A	XP_011516794.1:n.*45G>A
XM_011518495.1:c.370G>A	XP_011516797.1:p.Val124Ile
XR_929747.1:n.2597G>A
XR_929748.1:n.2495G>A
XR_929750.1:n.2596G>A
XR_929751.1:n.2503G>A
XR_929757.1:n.2470G>A
NM_001346890.1:c.607G>A	NP_001333819.1:p.Val203Ile
XM_011518486.2:c.1693G>A	XP_011516788.1:p.Val565Ile
XM_011518487.2:c.1567G>A	XP_011516789.1:p.Val523Ile
XM_011518488.2:c.1450G>A	XP_011516790.1:p.Val484Ile
XM_011518492.2:c.*45G>A	XP_011516794.1:n.*45G>A
XR_929747.2:n.1908G>A
XR_929748.2:n.1806G>A
XR_929750.3:n.1907G>A
XR_929757.2:n.1781G>A
NM_015404.4:c.1660G>A MANE Select	NP_056219.3:p.Val554Ile
NM_001173425.2:c.1660G>A	NP_001166896.1:p.Val554Ile
NM_001083885.3:c.511G>A	NP_001077354.2:p.Val171Ile