Canonical Allele Identifier: CA351663234
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1059414
ClinVar RCV Id: RCV001368688
dbSNP Id: rs1708131659

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745588G>C , CM000665.2:g.8745588G>C GRCh38
NC_000003.11:g.8787274G>C , CM000665.1:g.8787274G>C GRCh37
NC_000003.10:g.8762274G>C NCBI36
NG_008797.2:g.16779G>C , LRG_329:g.16779G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.177G>C MANE Select ENSP00000341940.2:p.Lys59Asn
ENST00000343849.2:c.177G>C ENSP00000341940.2:p.Lys59Asn
ENST00000397368.2:c.177G>C ENSP00000380525.2:p.Lys59Asn
ENST00000472766.1:n.155+11598G>C
NM_001234.4:c.177G>C NP_001225.1:p.Lys59Asn
NM_033337.2:c.177G>C , LRG_329t1:c.177G>C NP_203123.1:p.Lys59Asn
NM_001234.5:c.177G>C NP_001225.1:p.Lys59Asn
NM_033337.3:c.177G>C MANE Select NP_203123.1:p.Lys59Asn