Canonical Allele Identifier: CA381338372
Gene: CATSPER1 HGNC NCBI

Linked Data

dbSNP Id: rs1286909936
gnomAD v2: 11-65792915-A-C
gnomAD v4: 11-66025444-A-C
MyVariant Identifiers: chr11:g.65792915A>C (hg19) chr11:g.66025444A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.66025444A>C , CM000673.2:g.66025444A>C GRCh38
NC_000011.9:g.65792915A>C , CM000673.1:g.65792915A>C GRCh37
NC_000011.8:g.65549491A>C NCBI36
NG_016285.1:g.6074T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000312106.6:c.936T>G MANE Select ENSP00000309052.5:p.Ser312Arg
ENST00000312106.5:c.936T>G ENSP00000309052.5:p.Ser312Arg
NM_053054.3:c.936T>G NP_444282.3:p.Ser312Arg
XR_949785.1:n.1076T>G
XR_949786.1:n.1076T>G
XR_949787.1:n.1076T>G
XR_002957121.1:n.1074T>G
XR_002957122.1:n.1075T>G
XR_949785.2:n.1074T>G
XR_949787.2:n.1075T>G
NM_053054.4:c.936T>G MANE Select NP_444282.3:p.Ser312Arg
Search 100 bp 5'
Search 100 bp 3'