Canonical Allele Identifier: CA6114804

Gene: CATSPER1

Linked Data

• dbSNP Id: rs758302064
• ExAC: 11:65792818 G / A
• gnomAD v2: 11-65792818-G-A
• gnomAD v3: 11-66025347-G-A
• gnomAD v4: 11-66025347-G-A
• COSMIC: COSM930616
• MyVariant Identifiers: chr11:g.65792818G>A (hg19) ; chr11:g.66025347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025347G>A , CM000673.2:g.66025347G>A	GRCh38
NC_000011.9:g.65792818G>A , CM000673.1:g.65792818G>A	GRCh37
NC_000011.8:g.65549394G>A	NCBI36
NG_016285.1:g.6171C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.1033C>T MANE Select	ENSP00000309052.5:p.Arg345Cys
ENST00000312106.5:c.1033C>T	ENSP00000309052.5:p.Arg345Cys
NM_053054.3:c.1033C>T	NP_444282.3:p.Arg345Cys
XR_949785.1:n.1173C>T
XR_949786.1:n.1173C>T
XR_949787.1:n.1173C>T
XR_002957121.1:n.1171C>T
XR_002957122.1:n.1172C>T
XR_949785.2:n.1171C>T
XR_949787.2:n.1172C>T
NM_053054.4:c.1033C>T MANE Select	NP_444282.3:p.Arg345Cys