Canonical Allele Identifier: CA8575749
Gene: CAVIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1162815
ClinVar RCV Id: RCV001507381
dbSNP Id: rs201945184
ExAC: 17:40556776 C / T
gnomAD v2: 17-40556776-C-T
gnomAD v3: 17-42404758-C-T
gnomAD v4: 17-42404758-C-T
MyVariant Identifiers: chr17:g.40556776C>T (hg19) chr17:g.42404758C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404758C>T , CM000679.2:g.42404758C>T GRCh38
NC_000017.10:g.40556776C>T , CM000679.1:g.40556776C>T GRCh37
NC_000017.9:g.37810302C>T NCBI36
NG_015845.1:g.23563G>A
NG_015845.2:g.23563G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1102G>A MANE Select ENSP00000349541.4:p.Asp368Asn
ENST00000357037.5:c.1102G>A ENSP00000349541.4:p.Asp368Asn
NM_012232.5:c.1102G>A NP_036364.2:p.Asp368Asn
NM_012232.6:c.1102G>A MANE Select NP_036364.2:p.Asp368Asn
Search 100 bp 5'
Search 100 bp 3'