Canonical Allele Identifier: CA2236371
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs754744050
gnomAD v2: 3-8787542-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745856A>C , CM000665.2:g.8745856A>C GRCh38
NC_000003.11:g.8787542A>C , CM000665.1:g.8787542A>C GRCh37
NC_000003.10:g.8762542A>C NCBI36
NG_008797.2:g.17047A>C , LRG_329:g.17047A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.445A>C MANE Select ENSP00000341940.2:p.Lys149Gln
ENST00000343849.2:c.445A>C ENSP00000341940.2:p.Lys149Gln
ENST00000397368.2:c.445A>C ENSP00000380525.2:p.Lys149Gln
ENST00000472766.1:n.155+11866A>C
NM_001234.4:c.445A>C NP_001225.1:p.Lys149Gln
NM_033337.2:c.445A>C , LRG_329t1:c.445A>C NP_203123.1:p.Lys149Gln
NM_001234.5:c.445A>C NP_001225.1:p.Lys149Gln
NM_033337.3:c.445A>C MANE Select NP_203123.1:p.Lys149Gln