Canonical Allele Identifier: CA374621164

Gene: WHRN

Linked Data

• gnomAD v4: 9-114407976-T-C
• MyVariant Identifiers: chr9:g.117170256T>C (hg19) ; chr9:g.114407976T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114407976T>C , CM000671.2:g.114407976T>C	GRCh38
NC_000009.11:g.117170256T>C , CM000671.1:g.117170256T>C	GRCh37
NC_000009.10:g.116210077T>C	NCBI36
NG_016700.1:g.102481A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.1669A>G MANE Select	ENSP00000354623.3:p.Asn557Asp
ENST00000673811.1:n.2393A>G
ENST00000674036.8:c.642A>G
ENST00000674048.1:n.1550A>G
ENST00000265134.10:c.520A>G	ENSP00000265134.6:p.Asn174Asp
ENST00000362057.3:c.1669A>G	ENSP00000354623.3:p.Asn557Asp
ENST00000374059.7:c.616A>G	ENSP00000363172.3:p.Asn206Asp
NM_001083885.2:c.520A>G	NP_001077354.2:p.Asn174Asp
NM_001173425.1:c.1669A>G	NP_001166896.1:p.Asn557Asp
NM_015404.3:c.1669A>G	NP_056219.3:p.Asn557Asp
XM_005251897.3:c.1006A>G	XP_005251954.2:p.Asn336Asp
XM_011518484.1:c.1702A>G	XP_011516786.1:p.Asn568Asp
XM_011518485.1:c.1702A>G	XP_011516787.1:p.Asn568Asp
XM_011518486.1:c.1702A>G	XP_011516788.1:p.Asn568Asp
XM_011518487.1:c.1576A>G	XP_011516789.1:p.Asn526Asp
XM_011518488.1:c.1459A>G	XP_011516790.1:p.Asn487Asp
XM_011518492.1:c.*54A>G	XP_011516794.1:n.*54A>G
XM_011518495.1:c.379A>G	XP_011516797.1:p.Asn127Asp
XR_929747.1:n.2606A>G
XR_929748.1:n.2504A>G
XR_929750.1:n.2605A>G
XR_929751.1:n.2512A>G
XR_929757.1:n.2479A>G
NM_001346890.1:c.616A>G	NP_001333819.1:p.Asn206Asp
XM_011518486.2:c.1702A>G	XP_011516788.1:p.Asn568Asp
XM_011518487.2:c.1576A>G	XP_011516789.1:p.Asn526Asp
XM_011518488.2:c.1459A>G	XP_011516790.1:p.Asn487Asp
XM_011518492.2:c.*54A>G	XP_011516794.1:n.*54A>G
XR_929747.2:n.1917A>G
XR_929748.2:n.1815A>G
XR_929750.3:n.1916A>G
XR_929757.2:n.1790A>G
NM_015404.4:c.1669A>G MANE Select	NP_056219.3:p.Asn557Asp
NM_001173425.2:c.1669A>G	NP_001166896.1:p.Asn557Asp
NM_001083885.3:c.520A>G	NP_001077354.2:p.Asn174Asp