Canonical Allele Identifier: CA2637954683
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42403099-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42403099A>C , CM000679.2:g.42403099A>C GRCh38
NC_000017.10:g.40555117A>C , CM000679.1:g.40555117A>C GRCh37
NC_000017.9:g.37808643A>C NCBI36
NG_015845.1:g.25222T>G
NG_015845.2:g.25222T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*1588T>G MANE Select ENSP00000349541.4:n.*1588T>G
ENST00000357037.5:c.*1588T>G ENSP00000349541.4:n.*1588T>G
NM_012232.5:c.*1588T>G NP_036364.2:n.*1588T>G
NM_012232.6:c.*1588T>G MANE Select NP_036364.2:n.*1588T>G
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