Canonical Allele Identifier: CA6114799
Gene: CATSPER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 768457
ClinVar RCV Id: RCV001104265 RCV000947357
dbSNP Id: rs1191715
ExAC: 11:65792794 C / T
gnomAD v2: 11-65792794-C-T
gnomAD v3: 11-66025323-C-T
gnomAD v4: 11-66025323-C-T
MyVariant Identifiers: chr11:g.65792794C>T (hg19) chr11:g.66025323C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025323C>T , CM000673.2:g.66025323C>T GRCh38
NC_000011.9:g.65792794C>T , CM000673.1:g.65792794C>T GRCh37
NC_000011.8:g.65549370C>T NCBI36
NG_016285.1:g.6195G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000312106.6:c.1057G>A MANE Select ENSP00000309052.5:p.Val353Ile
ENST00000312106.5:c.1057G>A ENSP00000309052.5:p.Val353Ile
NM_053054.3:c.1057G>A NP_444282.3:p.Val353Ile
XR_949785.1:n.1197G>A
XR_949786.1:n.1197G>A
XR_949787.1:n.1197G>A
XR_002957121.1:n.1195G>A
XR_002957122.1:n.1196G>A
XR_949785.2:n.1195G>A
XR_949787.2:n.1196G>A
NM_053054.4:c.1057G>A MANE Select NP_444282.3:p.Val353Ile
Search 100 bp 5'
Search 100 bp 3'