Canonical Allele Identifier: CA290749881
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs961791733
MyVariant Identifiers: chr17:g.40556419A>C (hg19) chr17:g.42404401A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404401A>C , CM000679.2:g.42404401A>C GRCh38
NC_000017.10:g.40556419A>C , CM000679.1:g.40556419A>C GRCh37
NC_000017.9:g.37809945A>C NCBI36
NG_015845.1:g.23920T>G
NG_015845.2:g.23920T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*286T>G MANE Select ENSP00000349541.4:n.*286T>G
ENST00000357037.5:c.*286T>G ENSP00000349541.4:n.*286T>G
NM_012232.5:c.*286T>G NP_036364.2:n.*286T>G
NM_012232.6:c.*286T>G MANE Select NP_036364.2:n.*286T>G
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