Canonical Allele Identifier: CA351663623

Gene: CAV3

Linked Data

• ClinVar Variation Id: 1953743
• ClinVar RCV Id: RCV002681892
• MyVariant Identifiers: chr3:g.8787465T>C (hg19) ; chr3:g.8745779T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745779T>C , CM000665.2:g.8745779T>C	GRCh38
NC_000003.11:g.8787465T>C , CM000665.1:g.8787465T>C	GRCh37
NC_000003.10:g.8762465T>C	NCBI36
NG_008797.2:g.16970T>C , LRG_329:g.16970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.368T>C MANE Select	ENSP00000341940.2:p.Leu123Pro
ENST00000343849.2:c.368T>C	ENSP00000341940.2:p.Leu123Pro
ENST00000397368.2:c.368T>C	ENSP00000380525.2:p.Leu123Pro
ENST00000472766.1:n.155+11789T>C
NM_001234.4:c.368T>C	NP_001225.1:p.Leu123Pro
NM_033337.2:c.368T>C , LRG_329t1:c.368T>C	NP_203123.1:p.Leu123Pro
NM_001234.5:c.368T>C	NP_001225.1:p.Leu123Pro
NM_033337.3:c.368T>C MANE Select	NP_203123.1:p.Leu123Pro