Canonical Allele Identifier: CA223856
Community Standard Title: NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)
Gene: CAV3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745854G>A , CM000665.2:g.8745854G>A GRCh38
NC_000003.11:g.8787540G>A , CM000665.1:g.8787540G>A GRCh37
NC_000003.10:g.8762540G>A NCBI36
NG_008797.2:g.17045G>A , LRG_329:g.17045G>A

Transcript Alleles

HGVS Amino-acid Change
NM_033337.3:c.443G>A MANE Select NP_203123.1:p.Arg148Gln
ENST00000343849.3:c.443G>A MANE Select ENSP00000341940.2:p.Arg148Gln
NM_001234.4:c.443G>A NP_001225.1:p.Arg148Gln
NM_001234.5:c.443G>A NP_001225.1:p.Arg148Gln
NM_033337.2:c.443G>A , LRG_329t1:c.443G>A NP_203123.1:p.Arg148Gln
ENST00000343849.2:c.443G>A ENSP00000341940.2:p.Arg148Gln
ENST00000397368.2:c.443G>A ENSP00000380525.2:p.Arg148Gln
ENST00000472766.1:n.155+11864G>A
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