Canonical Allele Identifier: CA2260466701
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs2085430205
gnomAD v4: 17-42404601-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404601A>C , CM000679.2:g.42404601A>C GRCh38
NC_000017.10:g.40556619A>C , CM000679.1:g.40556619A>C GRCh37
NC_000017.9:g.37810145A>C NCBI36
NG_015845.1:g.23720T>G
NG_015845.2:g.23720T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.*86T>G MANE Select ENSP00000349541.4:n.*86T>G
ENST00000357037.5:c.*86T>G ENSP00000349541.4:n.*86T>G
NM_012232.5:c.*86T>G NP_036364.2:n.*86T>G
NM_012232.6:c.*86T>G MANE Select NP_036364.2:n.*86T>G
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