Canonical Allele Identifier: CA432356395

Gene: CAV3 SSUH2

Linked Data

• MyVariant Identifiers: chr3:g.8775583A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733897A>T , CM000665.2:g.8733897A>T	GRCh38
NC_000003.11:g.8775583A>T , CM000665.1:g.8775583A>T	GRCh37
NC_000003.10:g.8750583A>T	NCBI36
NG_008797.2:g.5088A>T , LRG_329:g.5088A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.21A>T (CAV3) MANE Select	ENSP00000341940.2:p.Thr7=
ENST00000343849.2:c.21A>T (CAV3)	ENSP00000341940.2:p.Thr7=
ENST00000397368.2:c.21A>T (CAV3)	ENSP00000380525.2:p.Thr7=
ENST00000435138.5:c.64+8562T>A (SSUH2)	ENSP00000412333.1:n.64+8562T>A
ENST00000472766.1:n.62A>T (CAV3)
ENST00000478513.1:n.335+8562T>A (SSUH2)
NM_001234.4:c.21A>T (CAV3)	NP_001225.1:p.Thr7=
NM_033337.2:c.21A>T , LRG_329t1:c.21A>T (CAV3)	NP_203123.1:p.Thr7=
XR_940435.1:n.330+8562T>A (SSUH2)
XM_017006530.1:c.-283+8562T>A (SSUH2)	XP_016862019.1:n.-283+8562T>A
NM_001234.5:c.21A>T (CAV3)	NP_001225.1:p.Thr7=
NM_033337.3:c.21A>T (CAV3) MANE Select	NP_203123.1:p.Thr7=