Canonical Allele Identifier: CA540847524

Gene: CAV3

Linked Data

• dbSNP Id: rs1397573960
• gnomAD v2: 3-8786969-T-C
• gnomAD v3: 3-8745283-T-C
• gnomAD v4: 3-8745283-T-C
• MyVariant Identifiers: chr3:g.8786969T>C (hg19) ; chr3:g.8745283T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745283T>C , CM000665.2:g.8745283T>C	GRCh38
NC_000003.11:g.8786969T>C , CM000665.1:g.8786969T>C	GRCh37
NC_000003.10:g.8761969T>C	NCBI36
NG_008797.2:g.16474T>C , LRG_329:g.16474T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.115-243T>C MANE Select	ENSP00000341940.2:n.115-243T>C
ENST00000343849.2:c.115-243T>C	ENSP00000341940.2:n.115-243T>C
ENST00000397368.2:c.115-243T>C	ENSP00000380525.2:n.115-243T>C
ENST00000472766.1:n.155+11293T>C
NM_001234.4:c.115-243T>C	NP_001225.1:n.115-243T>C
NM_033337.2:c.115-243T>C , LRG_329t1:c.115-243T>C	NP_203123.1:n.115-243T>C
NM_001234.5:c.115-243T>C	NP_001225.1:n.115-243T>C
NM_033337.3:c.115-243T>C MANE Select	NP_203123.1:n.115-243T>C