Canonical Allele Identifier: CA399582631
Gene: CAVIN1 HGNC NCBI

Linked Data

dbSNP Id: rs1444442045
gnomAD v2: 17-40556824-C-T
gnomAD v3: 17-42404806-C-T
gnomAD v4: 17-42404806-C-T
COSMIC: COSM4719441
MyVariant Identifiers: chr17:g.40556824C>T (hg19) chr17:g.42404806C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404806C>T , CM000679.2:g.42404806C>T GRCh38
NC_000017.10:g.40556824C>T , CM000679.1:g.40556824C>T GRCh37
NC_000017.9:g.37810350C>T NCBI36
NG_015845.1:g.23515G>A
NG_015845.2:g.23515G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1054G>A MANE Select ENSP00000349541.4:p.Gly352Ser
ENST00000357037.5:c.1054G>A ENSP00000349541.4:p.Gly352Ser
NM_012232.5:c.1054G>A NP_036364.2:p.Gly352Ser
NM_012232.6:c.1054G>A MANE Select NP_036364.2:p.Gly352Ser
Search 100 bp 5'
Search 100 bp 3'