Canonical Allele Identifier: CA432525952
Gene: CAV3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.8787331G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745645G>C , CM000665.2:g.8745645G>C GRCh38
NC_000003.11:g.8787331G>C , CM000665.1:g.8787331G>C GRCh37
NC_000003.10:g.8762331G>C NCBI36
NG_008797.2:g.16836G>C , LRG_329:g.16836G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.234G>C MANE Select ENSP00000341940.2:p.Thr78=
ENST00000343849.2:c.234G>C ENSP00000341940.2:p.Thr78=
ENST00000397368.2:c.234G>C ENSP00000380525.2:p.Thr78=
ENST00000472766.1:n.155+11655G>C
NM_001234.4:c.234G>C NP_001225.1:p.Thr78=
NM_033337.2:c.234G>C , LRG_329t1:c.234G>C NP_203123.1:p.Thr78=
NM_001234.5:c.234G>C NP_001225.1:p.Thr78=
NM_033337.3:c.234G>C MANE Select NP_203123.1:p.Thr78=
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