Canonical Allele Identifier: CA983833386
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v3: 17-42403117-G-T
gnomAD v4: 17-42403117-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42403117G>T , CM000679.2:g.42403117G>T GRCh38
NC_000017.10:g.40555135G>T , CM000679.1:g.40555135G>T GRCh37
NC_000017.9:g.37808661G>T NCBI36
NG_015845.1:g.25204C>A
NG_015845.2:g.25204C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*1570C>A MANE Select ENSP00000349541.4:n.*1570C>A
ENST00000357037.5:c.*1570C>A ENSP00000349541.4:n.*1570C>A
NM_012232.5:c.*1570C>A NP_036364.2:n.*1570C>A
NM_012232.6:c.*1570C>A MANE Select NP_036364.2:n.*1570C>A
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