Canonical Allele Identifier: CA19749601
Gene: CATSPER4 HGNC NCBI
ClinVar RCV:
RCV004342780
ClinVar Variation:
2597462
dbSNP:
1048749084
gnomAD v2:
1:26517311 C / A
gnomAD v3:
1:26190820 C / A
gnomAD v4:
chr1-26190820-C-A
Joint Max Group AF 0.00018772 (AFR)
Genomes Max Group AF 0.00013063 (AFR)
Exomes Max Group AF 0.00018351 (AFR)
MyVariant.info:
GRCh38 chr1:g.26190820C>A
GRCh38 chr1:g.26190820_26190821delinsAA
GRCh37 chr1:g.26517311C>A
GRCh37 chr1:g.26517311_26517312delinsAA
Revel Score:
ENST00000338855 0.215
ENST00000456354 (MANE Select) 0.215
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26190820C>A , CM000663.2:g.26190820C>A GRCh38
NC_000001.10:g.26517311C>A , CM000663.1:g.26517311C>A GRCh37
NC_000001.9:g.26389898C>A NCBI36
NG_047117.1:g.18331C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000456354.7:c.193C>A MANE Select ENSP00000390423.3:p.Gln65Lys
ENST00000338855.6:c.193C>A ENSP00000341006.2:p.Gln65Lys
ENST00000456354.6:c.193C>A ENSP00000390423.2:p.Gln65Lys
ENST00000518899.5:c.193C>A ENSP00000429464.1:p.Gln65Lys
ENST00000611853.1:c.160C>A ENSP00000477936.1:p.Gln54Lys
NM_198137.1:c.193C>A NP_937770.1:p.Gln65Lys
XM_011541432.1:c.193C>A XP_011539734.1:p.Gln65Lys
XM_011541433.1:c.193C>A XP_011539735.1:p.Gln65Lys
XM_011541432.3:c.193C>A XP_011539734.1:p.Gln65Lys
XM_011541433.2:c.193C>A XP_011539735.1:p.Gln65Lys
NM_198137.2:c.193C>A MANE Select NP_937770.1:p.Gln65Lys
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