Canonical Allele Identifier: CA154817

Gene: CAVIN1

Linked Data

• ClinVar Variation Id: 130056
• ClinVar RCV Id: RCV000118083 ; RCV000284193 ; RCV000965384
• dbSNP Id: rs35648297
• ExAC: 17:40557035 C / T
• gnomAD v2: 17-40557035-C-T
• gnomAD v3: 17-42405017-C-T
• gnomAD v4: 17-42405017-C-T
• MyVariant Identifiers: chr17:g.40557035C>T (hg19) ; chr17:g.42405017C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42405017C>T , CM000679.2:g.42405017C>T	GRCh38
NC_000017.10:g.40557035C>T , CM000679.1:g.40557035C>T	GRCh37
NC_000017.9:g.37810561C>T	NCBI36
NG_015845.1:g.23304G>A
NG_015845.2:g.23304G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357037.6:c.843G>A MANE Select	ENSP00000349541.4:p.Leu281=
ENST00000357037.5:c.843G>A	ENSP00000349541.4:p.Leu281=
NM_012232.5:c.843G>A	NP_036364.2:p.Leu281=
NM_012232.6:c.843G>A MANE Select	NP_036364.2:p.Leu281=