Canonical Allele Identifier: CA374621152

Gene: WHRN

Linked Data

• gnomAD v4: 9-114407971-G-C
• MyVariant Identifiers: chr9:g.117170251G>C (hg19) ; chr9:g.114407971G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407971G>C , CM000671.2:g.114407971G>C	GRCh38
NC_000009.11:g.117170251G>C , CM000671.1:g.117170251G>C	GRCh37
NC_000009.10:g.116210072G>C	NCBI36
NG_016700.1:g.102486C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.1674C>G MANE Select	ENSP00000354623.3:p.Ile558Met
ENST00000673811.1:n.2398C>G
ENST00000674036.8:c.647C>G
ENST00000674048.1:n.1555C>G
ENST00000265134.10:c.525C>G	ENSP00000265134.6:p.Ile175Met
ENST00000362057.3:c.1674C>G	ENSP00000354623.3:p.Ile558Met
ENST00000374059.7:c.621C>G	ENSP00000363172.3:p.Ile207Met
NM_001083885.2:c.525C>G	NP_001077354.2:p.Ile175Met
NM_001173425.1:c.1674C>G	NP_001166896.1:p.Ile558Met
NM_015404.3:c.1674C>G	NP_056219.3:p.Ile558Met
XM_005251897.3:c.1011C>G	XP_005251954.2:p.Ile337Met
XM_011518484.1:c.1707C>G	XP_011516786.1:p.Ile569Met
XM_011518485.1:c.1707C>G	XP_011516787.1:p.Ile569Met
XM_011518486.1:c.1707C>G	XP_011516788.1:p.Ile569Met
XM_011518487.1:c.1581C>G	XP_011516789.1:p.Ile527Met
XM_011518488.1:c.1464C>G	XP_011516790.1:p.Ile488Met
XM_011518492.1:c.*59C>G	XP_011516794.1:n.*59C>G
XM_011518495.1:c.384C>G	XP_011516797.1:p.Ile128Met
XR_929747.1:n.2611C>G
XR_929748.1:n.2509C>G
XR_929750.1:n.2610C>G
XR_929751.1:n.2517C>G
XR_929757.1:n.2484C>G
NM_001346890.1:c.621C>G	NP_001333819.1:p.Ile207Met
XM_011518486.2:c.1707C>G	XP_011516788.1:p.Ile569Met
XM_011518487.2:c.1581C>G	XP_011516789.1:p.Ile527Met
XM_011518488.2:c.1464C>G	XP_011516790.1:p.Ile488Met
XM_011518492.2:c.*59C>G	XP_011516794.1:n.*59C>G
XR_929747.2:n.1922C>G
XR_929748.2:n.1820C>G
XR_929750.3:n.1921C>G
XR_929757.2:n.1795C>G
NM_015404.4:c.1674C>G MANE Select	NP_056219.3:p.Ile558Met
NM_001173425.2:c.1674C>G	NP_001166896.1:p.Ile558Met
NM_001083885.3:c.525C>G	NP_001077354.2:p.Ile175Met