Canonical Allele Identifier: CA2567478507
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404609-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404609C>T , CM000679.2:g.42404609C>T GRCh38
NC_000017.10:g.40556627C>T , CM000679.1:g.40556627C>T GRCh37
NC_000017.9:g.37810153C>T NCBI36
NG_015845.1:g.23712G>A
NG_015845.2:g.23712G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.*78G>A MANE Select ENSP00000349541.4:n.*78G>A
ENST00000357037.5:c.*78G>A ENSP00000349541.4:n.*78G>A
NM_012232.5:c.*78G>A NP_036364.2:n.*78G>A
NM_012232.6:c.*78G>A MANE Select NP_036364.2:n.*78G>A
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