Canonical Allele Identifier: CA399582528
Gene: CAVIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3137860
ClinVar RCV Id: RCV004430172

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404773G>A , CM000679.2:g.42404773G>A GRCh38
NC_000017.10:g.40556791G>A , CM000679.1:g.40556791G>A GRCh37
NC_000017.9:g.37810317G>A NCBI36
NG_015845.1:g.23548C>T
NG_015845.2:g.23548C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1087C>T MANE Select ENSP00000349541.4:p.Arg363Cys
ENST00000357037.5:c.1087C>T ENSP00000349541.4:p.Arg363Cys
NM_012232.5:c.1087C>T NP_036364.2:p.Arg363Cys
NM_012232.6:c.1087C>T MANE Select NP_036364.2:p.Arg363Cys