Canonical Allele Identifier: CA351663351
Gene: CAV3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.8787333T>A (hg19) chr3:g.8745647T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745647T>A , CM000665.2:g.8745647T>A GRCh38
NC_000003.11:g.8787333T>A , CM000665.1:g.8787333T>A GRCh37
NC_000003.10:g.8762333T>A NCBI36
NG_008797.2:g.16838T>A , LRG_329:g.16838T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.236T>A MANE Select ENSP00000341940.2:p.Leu79Gln
ENST00000343849.2:c.236T>A ENSP00000341940.2:p.Leu79Gln
ENST00000397368.2:c.236T>A ENSP00000380525.2:p.Leu79Gln
ENST00000472766.1:n.155+11657T>A
NM_001234.4:c.236T>A NP_001225.1:p.Leu79Gln
NM_033337.2:c.236T>A , LRG_329t1:c.236T>A NP_203123.1:p.Leu79Gln
NM_001234.5:c.236T>A NP_001225.1:p.Leu79Gln
NM_033337.3:c.236T>A MANE Select NP_203123.1:p.Leu79Gln
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Search 100 bp 3'