Canonical Allele Identifier: CA911565033

Gene: CAV3

Linked Data

• dbSNP Id: rs1410278472
• gnomAD v3: 3-8746034-G-C
• gnomAD v4: 3-8746034-G-C
• MyVariant Identifiers: chr3:g.8787720G>C (hg19) ; chr3:g.8746034G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8746034G>C , CM000665.2:g.8746034G>C	GRCh38
NC_000003.11:g.8787720G>C , CM000665.1:g.8787720G>C	GRCh37
NC_000003.10:g.8762720G>C	NCBI36
NG_008797.2:g.17225G>C , LRG_329:g.17225G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*167G>C MANE Select	ENSP00000341940.2:n.*167G>C
ENST00000343849.2:c.*167G>C	ENSP00000341940.2:n.*167G>C
ENST00000397368.2:c.*71G>C	ENSP00000380525.2:n.*71G>C
ENST00000472766.1:n.155+12044G>C
NM_001234.4:c.*71G>C	NP_001225.1:n.*71G>C
NM_033337.2:c.*167G>C , LRG_329t1:c.*167G>C	NP_203123.1:n.*167G>C
NM_001234.5:c.*71G>C	NP_001225.1:n.*71G>C
NM_033337.3:c.*167G>C MANE Select	NP_203123.1:n.*167G>C