Canonical Allele Identifier: CA351663234

Gene: CAV3

Linked Data

• ClinVar Variation Id: 1059414
• ClinVar RCV Id: RCV001368688
• dbSNP Id: rs1708131659
• MyVariant Identifiers: chr3:g.8787274G>C (hg19) ; chr3:g.8745588G>C (hg38)

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