Canonical Allele Identifier: CA6114787
Gene: CATSPER1 HGNC NCBI

Linked Data

dbSNP Id: rs758070867
ExAC: 11:65792754 G / A
gnomAD v2: 11-65792754-G-A
gnomAD v4: 11-66025283-G-A
MyVariant Identifiers: chr11:g.65792754G>A (hg19) chr11:g.66025283G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025283G>A , CM000673.2:g.66025283G>A GRCh38
NC_000011.9:g.65792754G>A , CM000673.1:g.65792754G>A GRCh37
NC_000011.8:g.65549330G>A NCBI36
NG_016285.1:g.6235C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312106.6:c.1097C>T MANE Select ENSP00000309052.5:p.Ser366Phe
ENST00000312106.5:c.1097C>T ENSP00000309052.5:p.Ser366Phe
NM_053054.3:c.1097C>T NP_444282.3:p.Ser366Phe
XR_949785.1:n.1237C>T
XR_949786.1:n.1237C>T
XR_949787.1:n.1237C>T
XR_002957121.1:n.1235C>T
XR_002957122.1:n.1236C>T
XR_949785.2:n.1235C>T
XR_949787.2:n.1236C>T
NM_053054.4:c.1097C>T MANE Select NP_444282.3:p.Ser366Phe
Search 100 bp 5'
Search 100 bp 3'