Canonical Allele Identifier: CA6114829

Gene: CATSPER1

Linked Data

• dbSNP Id: rs113730172
• ExAC: 11:65792911 G / C
• gnomAD v2: 11-65792911-G-C
• gnomAD v3: 11-66025440-G-C
• gnomAD v4: 11-66025440-G-C
• MyVariant Identifiers: chr11:g.65792911G>C (hg19) ; chr11:g.66025440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025440G>C , CM000673.2:g.66025440G>C	GRCh38
NC_000011.9:g.65792911G>C , CM000673.1:g.65792911G>C	GRCh37
NC_000011.8:g.65549487G>C	NCBI36
NG_016285.1:g.6078C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.940C>G MANE Select	ENSP00000309052.5:p.Leu314Val
ENST00000312106.5:c.940C>G	ENSP00000309052.5:p.Leu314Val
NM_053054.3:c.940C>G	NP_444282.3:p.Leu314Val
XR_949785.1:n.1080C>G
XR_949786.1:n.1080C>G
XR_949787.1:n.1080C>G
XR_002957121.1:n.1078C>G
XR_002957122.1:n.1079C>G
XR_949785.2:n.1078C>G
XR_949787.2:n.1079C>G
NM_053054.4:c.940C>G MANE Select	NP_444282.3:p.Leu314Val