Canonical Allele Identifier: CA224026020

Gene: CATSPER1

Linked Data

• dbSNP Id: rs982477138
• gnomAD v4: 11-66025342-T-C
• MyVariant Identifiers: chr11:g.65792813T>C (hg19) ; chr11:g.66025342T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66025342T>C , CM000673.2:g.66025342T>C	GRCh38
NC_000011.9:g.65792813T>C , CM000673.1:g.65792813T>C	GRCh37
NC_000011.8:g.65549389T>C	NCBI36
NG_016285.1:g.6176A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000312106.6:c.1038A>G MANE Select	ENSP00000309052.5:p.Thr346=
ENST00000312106.5:c.1038A>G	ENSP00000309052.5:p.Thr346=
NM_053054.3:c.1038A>G	NP_444282.3:p.Thr346=
XR_949785.1:n.1178A>G
XR_949786.1:n.1178A>G
XR_949787.1:n.1178A>G
XR_002957121.1:n.1176A>G
XR_002957122.1:n.1177A>G
XR_949785.2:n.1176A>G
XR_949787.2:n.1177A>G
NM_053054.4:c.1038A>G MANE Select	NP_444282.3:p.Thr346=