Canonical Allele Identifier: CA10619690

Gene: CAV3

Linked Data

• ClinVar Variation Id: 346864
• ClinVar RCV Id: RCV000268979 ; RCV000378597 ; RCV000384894
• dbSNP Id: rs886058920
• gnomAD v3: 3-8746720-T-C
• gnomAD v4: 3-8746720-T-C
• MyVariant Identifiers: chr3:g.8788406T>C (hg19) ; chr3:g.8746720T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8746720T>C , CM000665.2:g.8746720T>C	GRCh38
NC_000003.11:g.8788406T>C , CM000665.1:g.8788406T>C	GRCh37
NC_000003.10:g.8763406T>C	NCBI36
NG_008797.2:g.17911T>C , LRG_329:g.17911T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*853T>C MANE Select	ENSP00000341940.2:n.*853T>C
ENST00000343849.2:c.*853T>C	ENSP00000341940.2:n.*853T>C
ENST00000397368.2:c.*757T>C	ENSP00000380525.2:n.*757T>C
ENST00000472766.1:n.155+12730T>C
NM_001234.4:c.*757T>C	NP_001225.1:n.*757T>C
NM_033337.2:c.*853T>C , LRG_329t1:c.*853T>C	NP_203123.1:n.*853T>C
NM_001234.5:c.*757T>C	NP_001225.1:n.*757T>C
NM_033337.3:c.*853T>C MANE Select	NP_203123.1:n.*853T>C