Canonical Allele Identifier: CA772119778
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs919735920
gnomAD v3: 17-42403112-G-C
gnomAD v4: 17-42403112-G-C
MyVariant Identifiers: chr17:g.40555130G>C (hg19) chr17:g.42403112G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42403112G>C , CM000679.2:g.42403112G>C GRCh38
NC_000017.10:g.40555130G>C , CM000679.1:g.40555130G>C GRCh37
NC_000017.9:g.37808656G>C NCBI36
NG_015845.1:g.25209C>G
NG_015845.2:g.25209C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*1575C>G MANE Select ENSP00000349541.4:n.*1575C>G
ENST00000357037.5:c.*1575C>G ENSP00000349541.4:n.*1575C>G
NM_012232.5:c.*1575C>G NP_036364.2:n.*1575C>G
NM_012232.6:c.*1575C>G MANE Select NP_036364.2:n.*1575C>G
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