Canonical Allele Identifier: CA10631252
Gene: CATSPER1 HGNC NCBI

Linked Data

ClinVar Variation Id: 305434
ClinVar RCV Id: RCV000395724
dbSNP Id: rs886048522
gnomAD v4: 11-66025185-C-T
MyVariant Identifiers: chr11:g.65792656C>T (hg19) chr11:g.66025185C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025185C>T , CM000673.2:g.66025185C>T GRCh38
NC_000011.9:g.65792656C>T , CM000673.1:g.65792656C>T GRCh37
NC_000011.8:g.65549232C>T NCBI36
NG_016285.1:g.6333G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000312106.6:c.1195G>A MANE Select ENSP00000309052.5:p.Gly399Arg
ENST00000312106.5:c.1195G>A ENSP00000309052.5:p.Gly399Arg
NM_053054.3:c.1195G>A NP_444282.3:p.Gly399Arg
XR_949785.1:n.1335G>A
XR_949786.1:n.1335G>A
XR_949787.1:n.1335G>A
XR_002957121.1:n.1333G>A
XR_002957122.1:n.1334G>A
XR_949785.2:n.1333G>A
XR_949787.2:n.1334G>A
NM_053054.4:c.1195G>A MANE Select NP_444282.3:p.Gly399Arg
Search 100 bp 5'
Search 100 bp 3'