Canonical Allele Identifier: CA374613639

Gene: WHRN

Linked Data

• dbSNP Id: rs1351836953
• gnomAD v2: 9-117266865-C-T
• gnomAD v4: 9-114504585-C-T
• MyVariant Identifiers: chr9:g.117266865C>T (hg19) ; chr9:g.114504585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.114504585C>T , CM000671.2:g.114504585C>T	GRCh38
NC_000009.11:g.117266865C>T , CM000671.1:g.117266865C>T	GRCh37
NC_000009.10:g.116306686C>T	NCBI36
NG_016700.1:g.5872G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000362057.4:c.217G>A MANE Select	ENSP00000354623.3:p.Asp73Asn
ENST00000362057.3:c.217G>A	ENSP00000354623.3:p.Asp73Asn
ENST00000374057.3:c.217G>A	ENSP00000363170.3:p.Asp73Asn
NM_001173425.1:c.217G>A	NP_001166896.1:p.Asp73Asn
NM_015404.3:c.217G>A	NP_056219.3:p.Asp73Asn
XM_005251897.3:c.217G>A	XP_005251954.2:p.Asp73Asn
XM_011518484.1:c.217G>A	XP_011516786.1:p.Asp73Asn
XM_011518485.1:c.217G>A	XP_011516787.1:p.Asp73Asn
XM_011518486.1:c.217G>A	XP_011516788.1:p.Asp73Asn
XM_011518487.1:c.217G>A	XP_011516789.1:p.Asp73Asn
XM_011518488.1:c.217G>A	XP_011516790.1:p.Asp73Asn
XM_011518489.1:c.217G>A	XP_011516791.1:p.Asp73Asn
XM_011518490.1:c.217G>A	XP_011516792.1:p.Asp73Asn
XM_011518491.1:c.217G>A	XP_011516793.1:p.Asp73Asn
XM_011518492.1:c.217G>A	XP_011516794.1:p.Asp73Asn
XM_011518493.1:c.217G>A	XP_011516795.1:p.Asp73Asn
XM_011518494.1:c.217G>A	XP_011516796.1:p.Asp73Asn
XR_929747.1:n.925G>A
XR_929748.1:n.925G>A
XR_929749.1:n.925G>A
XR_929750.1:n.925G>A
XR_929751.1:n.925G>A
XR_929752.1:n.925G>A
XR_929753.1:n.925G>A
XR_929754.1:n.925G>A
XR_929755.1:n.925G>A
XR_929756.1:n.925G>A
XR_929757.1:n.925G>A
XM_011518486.2:c.217G>A	XP_011516788.1:p.Asp73Asn
XM_011518487.2:c.217G>A	XP_011516789.1:p.Asp73Asn
XM_011518488.2:c.217G>A	XP_011516790.1:p.Asp73Asn
XM_011518489.3:c.217G>A	XP_011516791.1:p.Asp73Asn
XM_011518491.3:c.217G>A	XP_011516793.1:p.Asp73Asn
XM_011518492.2:c.217G>A	XP_011516794.1:p.Asp73Asn
XM_011518494.3:c.217G>A	XP_011516796.1:p.Asp73Asn
XR_929747.2:n.236G>A
XR_929748.2:n.236G>A
XR_929749.2:n.236G>A
XR_929750.3:n.236G>A
XR_929752.2:n.236G>A
XR_929753.3:n.236G>A
XR_929754.2:n.236G>A
XR_929755.3:n.236G>A
XR_929756.2:n.236G>A
XR_929757.2:n.236G>A
NM_015404.4:c.217G>A MANE Select	NP_056219.3:p.Asp73Asn
NM_001173425.2:c.217G>A	NP_001166896.1:p.Asp73Asn