Canonical Allele Identifier: CA138560

Gene: CAV3

Linked Data

• ClinVar Variation Id: 46533
• ClinVar RCV Id: RCV000039798 ; RCV000620334
• dbSNP Id: rs149287333
• ExAC: 3:8787241 T / C
• gnomAD v2: 3-8787241-T-C
• gnomAD v3: 3-8745555-T-C
• gnomAD v4: 3-8745555-T-C
• MyVariant Identifiers: chr3:g.8787241T>C (hg19) ; chr3:g.8745555T>C (hg38)
• PubMed: PMID:24503780

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745555T>C , CM000665.2:g.8745555T>C	GRCh38
NC_000003.11:g.8787241T>C , CM000665.1:g.8787241T>C	GRCh37
NC_000003.10:g.8762241T>C	NCBI36
NG_008797.2:g.16746T>C , LRG_329:g.16746T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.144T>C MANE Select	ENSP00000341940.2:p.Pro48=
ENST00000343849.2:c.144T>C	ENSP00000341940.2:p.Pro48=
ENST00000397368.2:c.144T>C	ENSP00000380525.2:p.Pro48=
ENST00000472766.1:n.155+11565T>C
NM_001234.4:c.144T>C	NP_001225.1:p.Pro48=
NM_033337.2:c.144T>C , LRG_329t1:c.144T>C	NP_203123.1:p.Pro48=
NM_001234.5:c.144T>C	NP_001225.1:p.Pro48=
NM_033337.3:c.144T>C MANE Select	NP_203123.1:p.Pro48=