Canonical Allele Identifier: CA399581966
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404698-C-G
MyVariant Identifiers: chr17:g.40556716C>G (hg19) chr17:g.42404698C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404698C>G , CM000679.2:g.42404698C>G GRCh38
NC_000017.10:g.40556716C>G , CM000679.1:g.40556716C>G GRCh37
NC_000017.9:g.37810242C>G NCBI36
NG_015845.1:g.23623G>C
NG_015845.2:g.23623G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1162G>C MANE Select ENSP00000349541.4:p.Asp388His
ENST00000357037.5:c.1162G>C ENSP00000349541.4:p.Asp388His
NM_012232.5:c.1162G>C NP_036364.2:p.Asp388His
NM_012232.6:c.1162G>C MANE Select NP_036364.2:p.Asp388His
Search 100 bp 5'
Search 100 bp 3'