Canonical Allele Identifier: CA2236345

Gene: CAV3

Linked Data

• ClinVar Variation Id: 346849
• ClinVar RCV Id: RCV000278635 ; RCV000352365 ; RCV000373246
• dbSNP Id: rs768764242
• ExAC: 3:8787356 C / T
• gnomAD v2: 3-8787356-C-T
• gnomAD v4: 3-8745670-C-T
• MyVariant Identifiers: chr3:g.8787356C>T (hg19) ; chr3:g.8745670C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745670C>T , CM000665.2:g.8745670C>T	GRCh38
NC_000003.11:g.8787356C>T , CM000665.1:g.8787356C>T	GRCh37
NC_000003.10:g.8762356C>T	NCBI36
NG_008797.2:g.16861C>T , LRG_329:g.16861C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.259C>T MANE Select	ENSP00000341940.2:p.Leu87Phe
ENST00000343849.2:c.259C>T	ENSP00000341940.2:p.Leu87Phe
ENST00000397368.2:c.259C>T	ENSP00000380525.2:p.Leu87Phe
ENST00000472766.1:n.155+11680C>T
NM_001234.4:c.259C>T	NP_001225.1:p.Leu87Phe
NM_033337.2:c.259C>T , LRG_329t1:c.259C>T	NP_203123.1:p.Leu87Phe
NM_001234.5:c.259C>T	NP_001225.1:p.Leu87Phe
NM_033337.3:c.259C>T MANE Select	NP_203123.1:p.Leu87Phe