Canonical Allele Identifier: CA351661530

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 1807132
• ClinVar RCV Id: RCV002475089
• MyVariant Identifiers: chr3:g.8775653A>T (hg19) ; chr3:g.8733967A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733967A>T , CM000665.2:g.8733967A>T	GRCh38
NC_000003.11:g.8775653A>T , CM000665.1:g.8775653A>T	GRCh37
NC_000003.10:g.8750653A>T	NCBI36
NG_008797.2:g.5158A>T , LRG_329:g.5158A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.91A>T (CAV3) MANE Select	ENSP00000341940.2:p.Asn31Tyr
ENST00000343849.2:c.91A>T (CAV3)	ENSP00000341940.2:p.Asn31Tyr
ENST00000397368.2:c.91A>T (CAV3)	ENSP00000380525.2:p.Asn31Tyr
ENST00000435138.5:c.64+8492T>A (SSUH2)	ENSP00000412333.1:n.64+8492T>A
ENST00000472766.1:n.132A>T (CAV3)
ENST00000478513.1:n.335+8492T>A (SSUH2)
NM_001234.4:c.91A>T (CAV3)	NP_001225.1:p.Asn31Tyr
NM_033337.2:c.91A>T , LRG_329t1:c.91A>T (CAV3)	NP_203123.1:p.Asn31Tyr
XR_940435.1:n.330+8492T>A (SSUH2)
XM_017006530.1:c.-283+8492T>A (SSUH2)	XP_016862019.1:n.-283+8492T>A
NM_001234.5:c.91A>T (CAV3)	NP_001225.1:p.Asn31Tyr
NM_033337.3:c.91A>T (CAV3) MANE Select	NP_203123.1:p.Asn31Tyr