Canonical Allele Identifier: CA351661324

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 1428683
• ClinVar RCV Id: RCV001936428 ; RCV003167313
• dbSNP Id: rs1707652520
• MyVariant Identifiers: chr3:g.8775608G>A (hg19) ; chr3:g.8733922G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733922G>A , CM000665.2:g.8733922G>A	GRCh38
NC_000003.11:g.8775608G>A , CM000665.1:g.8775608G>A	GRCh37
NC_000003.10:g.8750608G>A	NCBI36
NG_008797.2:g.5113G>A , LRG_329:g.5113G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.46G>A (CAV3) MANE Select	ENSP00000341940.2:p.Asp16Asn
ENST00000343849.2:c.46G>A (CAV3)	ENSP00000341940.2:p.Asp16Asn
ENST00000397368.2:c.46G>A (CAV3)	ENSP00000380525.2:p.Asp16Asn
ENST00000435138.5:c.64+8537C>T (SSUH2)	ENSP00000412333.1:n.64+8537C>T
ENST00000472766.1:n.87G>A (CAV3)
ENST00000478513.1:n.335+8537C>T (SSUH2)
NM_001234.4:c.46G>A (CAV3)	NP_001225.1:p.Asp16Asn
NM_033337.2:c.46G>A , LRG_329t1:c.46G>A (CAV3)	NP_203123.1:p.Asp16Asn
XR_940435.1:n.330+8537C>T (SSUH2)
XM_017006530.1:c.-283+8537C>T (SSUH2)	XP_016862019.1:n.-283+8537C>T
NM_001234.5:c.46G>A (CAV3)	NP_001225.1:p.Asp16Asn
NM_033337.3:c.46G>A (CAV3) MANE Select	NP_203123.1:p.Asp16Asn