Canonical Allele Identifier: CA290750235
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs991180491
gnomAD v2: 17-40556731-G-T
gnomAD v3: 17-42404713-G-T
gnomAD v4: 17-42404713-G-T
MyVariant Identifiers: chr17:g.40556731G>T (hg19) chr17:g.42404713G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404713G>T , CM000679.2:g.42404713G>T GRCh38
NC_000017.10:g.40556731G>T , CM000679.1:g.40556731G>T GRCh37
NC_000017.9:g.37810257G>T NCBI36
NG_015845.1:g.23608C>A
NG_015845.2:g.23608C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1147C>A MANE Select ENSP00000349541.4:p.Leu383Met
ENST00000357037.5:c.1147C>A ENSP00000349541.4:p.Leu383Met
NM_012232.5:c.1147C>A NP_036364.2:p.Leu383Met
NM_012232.6:c.1147C>A MANE Select NP_036364.2:p.Leu383Met
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