Canonical Allele Identifier: CA138555

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 46531
• ClinVar RCV Id: RCV000039795 ; RCV000586122 ; RCV000621195
• dbSNP Id: rs74377241
• ExAC: 3:8775562 G / A
• gnomAD v2: 3-8775562-G-A
• gnomAD v3: 3-8733876-G-A
• gnomAD v4: 3-8733876-G-A
• MyVariant Identifiers: chr3:g.8775562G>A (hg19) ; chr3:g.8733876G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733876G>A , CM000665.2:g.8733876G>A	GRCh38
NC_000003.11:g.8775562G>A , CM000665.1:g.8775562G>A	GRCh37
NC_000003.10:g.8750562G>A	NCBI36
NG_008797.2:g.5067G>A , LRG_329:g.5067G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.-1G>A (CAV3) MANE Select	ENSP00000341940.2:n.-1G>A
ENST00000343849.2:c.-1G>A (CAV3)	ENSP00000341940.2:n.-1G>A
ENST00000397368.2:c.-1G>A (CAV3)	ENSP00000380525.2:n.-1G>A
ENST00000435138.5:c.64+8583C>T (SSUH2)	ENSP00000412333.1:n.64+8583C>T
ENST00000472766.1:n.41G>A (CAV3)
ENST00000478513.1:n.335+8583C>T (SSUH2)
NM_001234.4:c.-1G>A (CAV3)	NP_001225.1:n.-1G>A
NM_033337.2:c.-1G>A , LRG_329t1:c.-1G>A (CAV3)	NP_203123.1:n.-1G>A
XR_940435.1:n.330+8583C>T (SSUH2)
XM_017006530.1:c.-283+8583C>T (SSUH2)	XP_016862019.1:n.-283+8583C>T
NM_001234.5:c.-1G>A (CAV3)	NP_001225.1:n.-1G>A
NM_033337.3:c.-1G>A (CAV3) MANE Select	NP_203123.1:n.-1G>A