Canonical Allele Identifier: CA351663525
Gene: CAV3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.8787423G>C (hg19) chr3:g.8745737G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745737G>C , CM000665.2:g.8745737G>C GRCh38
NC_000003.11:g.8787423G>C , CM000665.1:g.8787423G>C GRCh37
NC_000003.10:g.8762423G>C NCBI36
NG_008797.2:g.16928G>C , LRG_329:g.16928G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.326G>C MANE Select ENSP00000341940.2:p.Ser109Thr
ENST00000343849.2:c.326G>C ENSP00000341940.2:p.Ser109Thr
ENST00000397368.2:c.326G>C ENSP00000380525.2:p.Ser109Thr
ENST00000472766.1:n.155+11747G>C
NM_001234.4:c.326G>C NP_001225.1:p.Ser109Thr
NM_033337.2:c.326G>C , LRG_329t1:c.326G>C NP_203123.1:p.Ser109Thr
NM_001234.5:c.326G>C NP_001225.1:p.Ser109Thr
NM_033337.3:c.326G>C MANE Select NP_203123.1:p.Ser109Thr
Search 100 bp 5'
Search 100 bp 3'