Canonical Allele Identifier: CA1344402024

Gene: CAV3 SSUH2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8738380C= , CM000665.2:g.8738380C=	GRCh38
NC_000003.11:g.8780066C= , CM000665.1:g.8780066C=	GRCh37
NC_000003.10:g.8755066C=	NCBI36
NG_008797.2:g.9571C= , LRG_329:g.9571C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+4390C= (CAV3) MANE Select	ENSP00000341940.2:n.114+4390C=
ENST00000343849.2:c.114+4390C= (CAV3)	ENSP00000341940.2:n.114+4390C=
ENST00000397368.2:c.114+4390C= (CAV3)	ENSP00000380525.2:n.114+4390C=
ENST00000435138.5:c.64+4079G= (SSUH2)	ENSP00000412333.1:n.64+4079G=
ENST00000472766.1:n.155+4390C= (CAV3)
ENST00000478513.1:n.335+4079G= (SSUH2)
NM_001234.4:c.114+4390C= (CAV3)	NP_001225.1:n.114+4390C=
NM_033337.2:c.114+4390C= , LRG_329t1:c.114+4390C= (CAV3)	NP_203123.1:n.114+4390C=
XR_940435.1:n.330+4079G= (SSUH2)
XM_017006530.1:c.-283+4079G= (SSUH2)	XP_016862019.1:n.-283+4079G=
NM_001234.5:c.114+4390C= (CAV3)	NP_001225.1:n.114+4390C=
NM_033337.3:c.114+4390C= (CAV3) MANE Select	NP_203123.1:n.114+4390C=