Canonical Allele Identifier: CA290750294
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs112863315
MyVariant Identifiers: chr17:g.40556772A>C (hg19) chr17:g.42404754A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404754A>C , CM000679.2:g.42404754A>C GRCh38
NC_000017.10:g.40556772A>C , CM000679.1:g.40556772A>C GRCh37
NC_000017.9:g.37810298A>C NCBI36
NG_015845.1:g.23567T>G
NG_015845.2:g.23567T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1106T>G MANE Select ENSP00000349541.4:p.Val369Gly
ENST00000357037.5:c.1106T>G ENSP00000349541.4:p.Val369Gly
NM_012232.5:c.1106T>G NP_036364.2:p.Val369Gly
NM_012232.6:c.1106T>G MANE Select NP_036364.2:p.Val369Gly
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Search 100 bp 3'