Canonical Allele Identifier: CA351661386

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 1715073
• ClinVar RCV Id: RCV002299372
• MyVariant Identifiers: chr3:g.8775620A>C (hg19) ; chr3:g.8733934A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733934A>C , CM000665.2:g.8733934A>C	GRCh38
NC_000003.11:g.8775620A>C , CM000665.1:g.8775620A>C	GRCh37
NC_000003.10:g.8750620A>C	NCBI36
NG_008797.2:g.5125A>C , LRG_329:g.5125A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.58A>C (CAV3) MANE Select	ENSP00000341940.2:p.Lys20Gln
ENST00000343849.2:c.58A>C (CAV3)	ENSP00000341940.2:p.Lys20Gln
ENST00000397368.2:c.58A>C (CAV3)	ENSP00000380525.2:p.Lys20Gln
ENST00000435138.5:c.64+8525T>G (SSUH2)	ENSP00000412333.1:n.64+8525T>G
ENST00000472766.1:n.99A>C (CAV3)
ENST00000478513.1:n.335+8525T>G (SSUH2)
NM_001234.4:c.58A>C (CAV3)	NP_001225.1:p.Lys20Gln
NM_033337.2:c.58A>C , LRG_329t1:c.58A>C (CAV3)	NP_203123.1:p.Lys20Gln
XR_940435.1:n.330+8525T>G (SSUH2)
XM_017006530.1:c.-283+8525T>G (SSUH2)	XP_016862019.1:n.-283+8525T>G
NM_001234.5:c.58A>C (CAV3)	NP_001225.1:p.Lys20Gln
NM_033337.3:c.58A>C (CAV3) MANE Select	NP_203123.1:p.Lys20Gln