Canonical Allele Identifier: CA911563391
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs1318161486
MyVariant Identifiers: chr3:g.8787016A>G (hg19) chr3:g.8745330A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745330A>G , CM000665.2:g.8745330A>G GRCh38
NC_000003.11:g.8787016A>G , CM000665.1:g.8787016A>G GRCh37
NC_000003.10:g.8762016A>G NCBI36
NG_008797.2:g.16521A>G , LRG_329:g.16521A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-196A>G MANE Select ENSP00000341940.2:n.115-196A>G
ENST00000343849.2:c.115-196A>G ENSP00000341940.2:n.115-196A>G
ENST00000397368.2:c.115-196A>G ENSP00000380525.2:n.115-196A>G
ENST00000472766.1:n.155+11340A>G
NM_001234.4:c.115-196A>G NP_001225.1:n.115-196A>G
NM_033337.2:c.115-196A>G , LRG_329t1:c.115-196A>G NP_203123.1:n.115-196A>G
NM_001234.5:c.115-196A>G NP_001225.1:n.115-196A>G
NM_033337.3:c.115-196A>G MANE Select NP_203123.1:n.115-196A>G
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