Canonical Allele Identifier: CA10650144
Gene: CAVIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 323258
ClinVar RCV Id: RCV000338867
dbSNP Id: rs7212299

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42402938A>G , CM000679.2:g.42402938A>G GRCh38
NC_000017.10:g.40554956A>G , CM000679.1:g.40554956A>G GRCh37
NC_000017.9:g.37808482A>G NCBI36
NG_015845.1:g.25383T>C
NG_015845.2:g.25383T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*1749T>C MANE Select ENSP00000349541.4:n.*1749T>C
ENST00000357037.5:c.*1749T>C ENSP00000349541.4:n.*1749T>C
NM_012232.5:c.*1749T>C NP_036364.2:n.*1749T>C
NM_012232.6:c.*1749T>C MANE Select NP_036364.2:n.*1749T>C