Canonical Allele Identifier: CA540847050

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1190009886
• gnomAD v2: 3-8783922-C-G
• gnomAD v3: 3-8742236-C-G
• gnomAD v4: 3-8742236-C-G
• MyVariant Identifiers: chr3:g.8783922C>G (hg19) ; chr3:g.8742236C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8742236C>G , CM000665.2:g.8742236C>G	GRCh38
NC_000003.11:g.8783922C>G , CM000665.1:g.8783922C>G	GRCh37
NC_000003.10:g.8758922C>G	NCBI36
NG_008797.2:g.13427C>G , LRG_329:g.13427C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.115-3290C>G (CAV3) MANE Select	ENSP00000341940.2:n.115-3290C>G
ENST00000343849.2:c.115-3290C>G (CAV3)	ENSP00000341940.2:n.115-3290C>G
ENST00000397368.2:c.115-3290C>G (CAV3)	ENSP00000380525.2:n.115-3290C>G
ENST00000435138.5:c.64+223G>C (SSUH2)	ENSP00000412333.1:n.64+223G>C
ENST00000472766.1:n.155+8246C>G (CAV3)
ENST00000478513.1:n.335+223G>C (SSUH2)
NM_001234.4:c.115-3290C>G (CAV3)	NP_001225.1:n.115-3290C>G
NM_033337.2:c.115-3290C>G , LRG_329t1:c.115-3290C>G (CAV3)	NP_203123.1:n.115-3290C>G
XR_940435.1:n.330+223G>C (SSUH2)
XM_017006530.1:c.-283+223G>C (SSUH2)	XP_016862019.1:n.-283+223G>C
NM_001234.5:c.115-3290C>G (CAV3)	NP_001225.1:n.115-3290C>G
NM_033337.3:c.115-3290C>G (CAV3) MANE Select	NP_203123.1:n.115-3290C>G