Canonical Allele Identifier: CA10643611

Gene: VSX1

Linked Data

• ClinVar Variation Id: 337943
• ClinVar RCV Id: RCV000302835
• dbSNP Id: rs186958062
• gnomAD v2: 20-25056077-A-G
• gnomAD v3: 20-25075441-A-G
• gnomAD v4: 20-25075441-A-G
• MyVariant Identifiers: chr20:g.25056077A>G (hg19) ; chr20:g.25075441A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.25075441A>G , CM000682.2:g.25075441A>G	GRCh38
NC_000020.10:g.25056077A>G , CM000682.1:g.25056077A>G	GRCh37
NC_000020.9:g.25004077A>G	NCBI36
NG_008101.1:g.11691T>C
NG_008101.2:g.11691T>C
NG_008101.3:g.11741T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376709.8:c.*820T>C	ENSP00000365899.3:n.*820T>C
ENST00000409285.6:c.808+2244T>C	ENSP00000386612.2:n.808+2244T>C
ENST00000409958.6:c.628-2798T>C	ENSP00000387069.2:n.628-2798T>C
ENST00000429762.7:c.808+2244T>C	ENSP00000401690.3:n.808+2244T>C
ENST00000444511.6:c.627+3388T>C	ENSP00000387720.2:n.627+3388T>C
NM_001256271.1:c.627+3388T>C	NP_001243200.1:n.627+3388T>C
NM_001256272.1:c.808+2244T>C	NP_001243201.1:n.808+2244T>C
NM_014588.5:c.*820T>C	NP_055403.2:n.*820T>C
NR_045948.1:n.1091+2244T>C
NR_045951.1:n.911-2798T>C
XM_017027837.1:c.808+2244T>C	XP_016883326.1:n.808+2244T>C
XM_017027838.1:c.628-2798T>C	XP_016883327.1:n.628-2798T>C
NR_165181.1:n.1928T>C
NR_165182.1:n.1478T>C
NR_165183.1:n.368+2244T>C
NM_001256271.2:c.627+3388T>C	NP_001243200.1:n.627+3388T>C
NM_001256272.2:c.808+2244T>C	NP_001243201.1:n.808+2244T>C
NR_045948.2:n.853+2244T>C
NR_045951.2:n.673-2798T>C
NR_165181.2:n.1810T>C
NR_165182.2:n.1478T>C
NR_165183.2:n.368+2244T>C