Canonical Allele Identifier: CA10619678
Community Standard Title: NM_033337.3(CAV3):c.*763G>A
Gene: CAV3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8746630G>A , CM000665.2:g.8746630G>A GRCh38
NC_000003.11:g.8788316G>A , CM000665.1:g.8788316G>A GRCh37
NC_000003.10:g.8763316G>A NCBI36
NG_008797.2:g.17821G>A , LRG_329:g.17821G>A

Transcript Alleles

HGVS Amino-acid Change
NM_033337.3:c.*763G>A MANE Select NP_203123.1:n.*763G>A
ENST00000343849.3:c.*763G>A MANE Select ENSP00000341940.2:n.*763G>A
NM_001234.4:c.*667G>A NP_001225.1:n.*667G>A
NM_001234.5:c.*667G>A NP_001225.1:n.*667G>A
NM_033337.2:c.*763G>A , LRG_329t1:c.*763G>A NP_203123.1:n.*763G>A
ENST00000343849.2:c.*763G>A ENSP00000341940.2:n.*763G>A
ENST00000397368.2:c.*667G>A ENSP00000380525.2:n.*667G>A
ENST00000472766.1:n.155+12640G>A
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