Canonical Allele Identifier: CA9793521

Gene: VSX1

Linked Data

• ClinVar Variation Id: 337959
• ClinVar RCV Id: RCV000400998 ; RCV000971972 ; RCV000990295 ; RCV003922472
• dbSNP Id: rs148957473
• ExAC: 20:25058398 T / C
• gnomAD v2: 20-25058398-T-C
• gnomAD v3: 20-25077762-T-C
• gnomAD v4: 20-25077762-T-C
• MyVariant Identifiers: chr20:g.25058398T>C (hg19) ; chr20:g.25077762T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25077762T>C , CM000682.2:g.25077762T>C	GRCh38
NC_000020.10:g.25058398T>C , CM000682.1:g.25058398T>C	GRCh37
NC_000020.9:g.25006398T>C	NCBI36
NG_008101.1:g.9370A>G
NG_008101.2:g.9370A>G
NG_008101.3:g.9420A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376709.9:c.731A>G MANE Select	ENSP00000365899.3:p.His244Arg
ENST00000376709.8:c.731A>G	ENSP00000365899.3:p.His244Arg
ENST00000409285.6:c.731A>G	ENSP00000386612.2:p.His244Arg
ENST00000409958.6:c.627+1067A>G	ENSP00000387069.2:n.627+1067A>G
ENST00000429762.7:c.731A>G	ENSP00000401690.3:p.His244Arg
ENST00000444511.6:c.627+1067A>G	ENSP00000387720.2:n.627+1067A>G
ENST00000557285.1:n.238A>G
NM_001256271.1:c.627+1067A>G	NP_001243200.1:n.627+1067A>G
NM_001256272.1:c.731A>G	NP_001243201.1:p.His244Arg
NM_014588.5:c.731A>G	NP_055403.2:p.His244Arg
NR_045948.1:n.1014A>G
NR_045951.1:n.910+1067A>G
XM_017027837.1:c.731A>G	XP_016883326.1:p.His244Arg
XM_017027838.1:c.627+1067A>G	XP_016883327.1:n.627+1067A>G
NM_014588.6:c.731A>G MANE Select	NP_055403.2:p.His244Arg
NR_165181.1:n.741A>G
NR_165182.1:n.291A>G
NR_165183.1:n.291A>G
NR_165184.1:n.291A>G
NM_001256271.2:c.627+1067A>G	NP_001243200.1:n.627+1067A>G
NM_001256272.2:c.731A>G	NP_001243201.1:p.His244Arg
NM_001378633.1:c.38A>G	NP_001365562.1:p.His13Arg
NR_045948.2:n.776A>G
NR_045951.2:n.672+1067A>G
NR_165181.2:n.623A>G
NR_165182.2:n.291A>G
NR_165183.2:n.291A>G