Canonical Allele Identifier: CA2236318
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs370587820
gnomAD v2: 3-8787180-T-C
gnomAD v3: 3-8745494-T-C
gnomAD v4: 3-8745494-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745494T>C , CM000665.2:g.8745494T>C GRCh38
NC_000003.11:g.8787180T>C , CM000665.1:g.8787180T>C GRCh37
NC_000003.10:g.8762180T>C NCBI36
NG_008797.2:g.16685T>C , LRG_329:g.16685T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-32T>C MANE Select ENSP00000341940.2:n.115-32T>C
ENST00000343849.2:c.115-32T>C ENSP00000341940.2:n.115-32T>C
ENST00000397368.2:c.115-32T>C ENSP00000380525.2:n.115-32T>C
ENST00000472766.1:n.155+11504T>C
NM_001234.4:c.115-32T>C NP_001225.1:n.115-32T>C
NM_033337.2:c.115-32T>C , LRG_329t1:c.115-32T>C NP_203123.1:n.115-32T>C
NM_001234.5:c.115-32T>C NP_001225.1:n.115-32T>C
NM_033337.3:c.115-32T>C MANE Select NP_203123.1:n.115-32T>C