Canonical Allele Identifier: CA374621147

Gene: WHRN

Linked Data

• gnomAD v4: 9-114407968-G-T
• MyVariant Identifiers: chr9:g.117170248G>T (hg19) ; chr9:g.114407968G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407968G>T , CM000671.2:g.114407968G>T	GRCh38
NC_000009.11:g.117170248G>T , CM000671.1:g.117170248G>T	GRCh37
NC_000009.10:g.116210069G>T	NCBI36
NG_016700.1:g.102489C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.1677C>A MANE Select	ENSP00000354623.3:p.Asn559Lys
ENST00000673811.1:n.2401C>A
ENST00000674036.8:c.650C>A
ENST00000674048.1:n.1558C>A
ENST00000265134.10:c.528C>A	ENSP00000265134.6:p.Asn176Lys
ENST00000362057.3:c.1677C>A	ENSP00000354623.3:p.Asn559Lys
ENST00000374059.7:c.624C>A	ENSP00000363172.3:p.Asn208Lys
NM_001083885.2:c.528C>A	NP_001077354.2:p.Asn176Lys
NM_001173425.1:c.1677C>A	NP_001166896.1:p.Asn559Lys
NM_015404.3:c.1677C>A	NP_056219.3:p.Asn559Lys
XM_005251897.3:c.1014C>A	XP_005251954.2:p.Asn338Lys
XM_011518484.1:c.1710C>A	XP_011516786.1:p.Asn570Lys
XM_011518485.1:c.1710C>A	XP_011516787.1:p.Asn570Lys
XM_011518486.1:c.1710C>A	XP_011516788.1:p.Asn570Lys
XM_011518487.1:c.1584C>A	XP_011516789.1:p.Asn528Lys
XM_011518488.1:c.1467C>A	XP_011516790.1:p.Asn489Lys
XM_011518492.1:c.*62C>A	XP_011516794.1:n.*62C>A
XM_011518495.1:c.387C>A	XP_011516797.1:p.Asn129Lys
XR_929747.1:n.2614C>A
XR_929748.1:n.2512C>A
XR_929750.1:n.2613C>A
XR_929751.1:n.2520C>A
XR_929757.1:n.2487C>A
NM_001346890.1:c.624C>A	NP_001333819.1:p.Asn208Lys
XM_011518486.2:c.1710C>A	XP_011516788.1:p.Asn570Lys
XM_011518487.2:c.1584C>A	XP_011516789.1:p.Asn528Lys
XM_011518488.2:c.1467C>A	XP_011516790.1:p.Asn489Lys
XM_011518492.2:c.*62C>A	XP_011516794.1:n.*62C>A
XR_929747.2:n.1925C>A
XR_929748.2:n.1823C>A
XR_929750.3:n.1924C>A
XR_929757.2:n.1798C>A
NM_015404.4:c.1677C>A MANE Select	NP_056219.3:p.Asn559Lys
NM_001173425.2:c.1677C>A	NP_001166896.1:p.Asn559Lys
NM_001083885.3:c.528C>A	NP_001077354.2:p.Asn176Lys