Canonical Allele Identifier: CA500215461
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs2085431457
gnomAD v4: 17-42404735-G-T
MyVariant Identifiers: chr17:g.40556753G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404735G>T , CM000679.2:g.42404735G>T GRCh38
NC_000017.10:g.40556753G>T , CM000679.1:g.40556753G>T GRCh37
NC_000017.9:g.37810279G>T NCBI36
NG_015845.1:g.23586C>A
NG_015845.2:g.23586C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1125C>A MANE Select ENSP00000349541.4:p.Ile375=
ENST00000357037.5:c.1125C>A ENSP00000349541.4:p.Ile375=
NM_012232.5:c.1125C>A NP_036364.2:p.Ile375=
NM_012232.6:c.1125C>A MANE Select NP_036364.2:p.Ile375=
Search 100 bp 5'
Search 100 bp 3'