Canonical Allele Identifier: CA138569

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 31716
• ClinVar RCV Id: RCV000024400 ; RCV000039803 ; RCV000241900 ; RCV000284784 ; RCV000379199 ; RCV000339745 ; RCV000397797 ; RCV000576516
• dbSNP Id: rs1974763
• ExAC: 3:8775589 C / T
• gnomAD v2: 3-8775589-C-T
• gnomAD v3: 3-8733903-C-T
• gnomAD v4: 3-8733903-C-T
• MyVariant Identifiers: chr3:g.8775589C>T (hg19) ; chr3:g.8733903C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733903C>T , CM000665.2:g.8733903C>T	GRCh38
NC_000003.11:g.8775589C>T , CM000665.1:g.8775589C>T	GRCh37
NC_000003.10:g.8750589C>T	NCBI36
NG_008797.2:g.5094C>T , LRG_329:g.5094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.27C>T (CAV3) MANE Select	ENSP00000341940.2:p.Leu9=
ENST00000343849.2:c.27C>T (CAV3)	ENSP00000341940.2:p.Leu9=
ENST00000397368.2:c.27C>T (CAV3)	ENSP00000380525.2:p.Leu9=
ENST00000435138.5:c.64+8556G>A (SSUH2)	ENSP00000412333.1:n.64+8556G>A
ENST00000472766.1:n.68C>T (CAV3)
ENST00000478513.1:n.335+8556G>A (SSUH2)
NM_001234.4:c.27C>T (CAV3)	NP_001225.1:p.Leu9=
NM_033337.2:c.27C>T , LRG_329t1:c.27C>T (CAV3)	NP_203123.1:p.Leu9=
XR_940435.1:n.330+8556G>A (SSUH2)
XM_017006530.1:c.-283+8556G>A (SSUH2)	XP_016862019.1:n.-283+8556G>A
NM_001234.5:c.27C>T (CAV3)	NP_001225.1:p.Leu9=
NM_033337.3:c.27C>T (CAV3) MANE Select	NP_203123.1:p.Leu9=