Canonical Allele Identifier: CA69870851
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs199660879
gnomAD v2: 3-8787580-G-C
gnomAD v3: 3-8745894-G-C
gnomAD v4: 3-8745894-G-C
MyVariant Identifiers: chr3:g.8787580G>C (hg19) chr3:g.8745894G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745894G>C , CM000665.2:g.8745894G>C GRCh38
NC_000003.11:g.8787580G>C , CM000665.1:g.8787580G>C GRCh37
NC_000003.10:g.8762580G>C NCBI36
NG_008797.2:g.17085G>C , LRG_329:g.17085G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.*27G>C MANE Select ENSP00000341940.2:n.*27G>C
ENST00000343849.2:c.*27G>C ENSP00000341940.2:n.*27G>C
ENST00000397368.2:c.*6+21G>C ENSP00000380525.2:n.*6+21G>C
ENST00000472766.1:n.155+11904G>C
NM_001234.4:c.*6+21G>C NP_001225.1:n.*6+21G>C
NM_033337.2:c.*27G>C , LRG_329t1:c.*27G>C NP_203123.1:n.*27G>C
NM_001234.5:c.*6+21G>C NP_001225.1:n.*6+21G>C
NM_033337.3:c.*27G>C MANE Select NP_203123.1:n.*27G>C
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