Canonical Allele Identifier: CA154819

Gene: CAVIN1

Linked Data

• ClinVar Variation Id: 130057
• ClinVar RCV Id: RCV000118084 ; RCV000324266 ; RCV000965383
• dbSNP Id: rs112332573
• ExAC: 17:40556951 C / T
• gnomAD v2: 17-40556951-C-T
• gnomAD v3: 17-42404933-C-T
• gnomAD v4: 17-42404933-C-T
• MyVariant Identifiers: chr17:g.40556951C>T (hg19) ; chr17:g.42404933C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42404933C>T , CM000679.2:g.42404933C>T	GRCh38
NC_000017.10:g.40556951C>T , CM000679.1:g.40556951C>T	GRCh37
NC_000017.9:g.37810477C>T	NCBI36
NG_015845.1:g.23388G>A
NG_015845.2:g.23388G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000357037.6:c.927G>A MANE Select	ENSP00000349541.4:p.Ala309=
ENST00000357037.5:c.927G>A	ENSP00000349541.4:p.Ala309=
NM_012232.5:c.927G>A	NP_036364.2:p.Ala309=
NM_012232.6:c.927G>A MANE Select	NP_036364.2:p.Ala309=