Canonical Allele Identifier: CA626050326
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1305193874
gnomAD v2: 17-40556631-C-G
gnomAD v3: 17-42404613-C-G
gnomAD v4: 17-42404613-C-G
MyVariant Identifiers: chr17:g.40556631C>G (hg19) chr17:g.42404613C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404613C>G , CM000679.2:g.42404613C>G GRCh38
NC_000017.10:g.40556631C>G , CM000679.1:g.40556631C>G GRCh37
NC_000017.9:g.37810157C>G NCBI36
NG_015845.1:g.23708G>C
NG_015845.2:g.23708G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.*74G>C MANE Select ENSP00000349541.4:n.*74G>C
ENST00000357037.5:c.*74G>C ENSP00000349541.4:n.*74G>C
NM_012232.5:c.*74G>C NP_036364.2:n.*74G>C
NM_012232.6:c.*74G>C MANE Select NP_036364.2:n.*74G>C
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