Canonical Allele Identifier: CA215196
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31734
ClinVar RCV Id: RCV000024420
dbSNP Id: rs199476337

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745712T>C , CM000665.2:g.8745712T>C GRCh38
NC_000003.11:g.8787398T>C , CM000665.1:g.8787398T>C GRCh37
NC_000003.10:g.8762398T>C NCBI36
NG_008797.2:g.16903T>C , LRG_329:g.16903T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.301T>C MANE Select ENSP00000341940.2:p.Trp101Arg
ENST00000343849.2:c.301T>C ENSP00000341940.2:p.Trp101Arg
ENST00000397368.2:c.301T>C ENSP00000380525.2:p.Trp101Arg
ENST00000472766.1:n.155+11722T>C
NM_001234.4:c.301T>C NP_001225.1:p.Trp101Arg
NM_033337.2:c.301T>C , LRG_329t1:c.301T>C NP_203123.1:p.Trp101Arg
NM_001234.5:c.301T>C NP_001225.1:p.Trp101Arg
NM_033337.3:c.301T>C MANE Select NP_203123.1:p.Trp101Arg