Canonical Allele Identifier: CA290749001
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs893937780
gnomAD v4: 17-42403193-A-G
MyVariant Identifiers: chr17:g.40555211A>G (hg19) chr17:g.42403193A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42403193A>G , CM000679.2:g.42403193A>G GRCh38
NC_000017.10:g.40555211A>G , CM000679.1:g.40555211A>G GRCh37
NC_000017.9:g.37808737A>G NCBI36
NG_015845.1:g.25128T>C
NG_015845.2:g.25128T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.*1494T>C MANE Select ENSP00000349541.4:n.*1494T>C
ENST00000357037.5:c.*1494T>C ENSP00000349541.4:n.*1494T>C
NM_012232.5:c.*1494T>C NP_036364.2:n.*1494T>C
NM_012232.6:c.*1494T>C MANE Select NP_036364.2:n.*1494T>C
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