×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA6114805
Gene: CATSPER1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2612850
ClinVar RCV Id:
RCV003369921
dbSNP Id:
rs777244571
ExAC:
11:65792820 G / A
gnomAD v2:
11-65792820-G-A
gnomAD v4:
11-66025349-G-A
MyVariant Identifiers:
chr11:g.65792820G>A (hg19)
chr11:g.66025349G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.66025349G>A , CM000673.2:g.66025349G>A
GRCh38
NC_000011.9:g.65792820G>A , CM000673.1:g.65792820G>A
GRCh37
NC_000011.8:g.65549396G>A
NCBI36
NG_016285.1:g.6169C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000312106.6:c.1031C>T
MANE Select
ENSP00000309052.5:p.Ser344Phe
ENST00000312106.5:c.1031C>T
ENSP00000309052.5:p.Ser344Phe
NM_053054.3:c.1031C>T
NP_444282.3:p.Ser344Phe
XR_949785.1:n.1171C>T
XR_949786.1:n.1171C>T
XR_949787.1:n.1171C>T
XR_002957121.1:n.1169C>T
XR_002957122.1:n.1170C>T
XR_949785.2:n.1169C>T
XR_949787.2:n.1170C>T
NM_053054.4:c.1031C>T
MANE Select
NP_444282.3:p.Ser344Phe
Search 100 bp 5'
Search 100 bp 3'