Canonical Allele Identifier: CA351663782
Gene: CAV3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.8787537T>C (hg19) chr3:g.8745851T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745851T>C , CM000665.2:g.8745851T>C GRCh38
NC_000003.11:g.8787537T>C , CM000665.1:g.8787537T>C GRCh37
NC_000003.10:g.8762537T>C NCBI36
NG_008797.2:g.17042T>C , LRG_329:g.17042T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.440T>C MANE Select ENSP00000341940.2:p.Leu147Pro
ENST00000343849.2:c.440T>C ENSP00000341940.2:p.Leu147Pro
ENST00000397368.2:c.440T>C ENSP00000380525.2:p.Leu147Pro
ENST00000472766.1:n.155+11861T>C
NM_001234.4:c.440T>C NP_001225.1:p.Leu147Pro
NM_033337.2:c.440T>C , LRG_329t1:c.440T>C NP_203123.1:p.Leu147Pro
NM_001234.5:c.440T>C NP_001225.1:p.Leu147Pro
NM_033337.3:c.440T>C MANE Select NP_203123.1:p.Leu147Pro
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