Canonical Allele Identifier: CA10649268
Gene: CAVIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 323267
ClinVar RCV Id: RCV000363489
dbSNP Id: rs6416922

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42403872T>C , CM000679.2:g.42403872T>C GRCh38
NC_000017.10:g.40555890T>C , CM000679.1:g.40555890T>C GRCh37
NC_000017.9:g.37809416T>C NCBI36
NG_015845.1:g.24449A>G
NG_015845.2:g.24449A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*815A>G MANE Select ENSP00000349541.4:n.*815A>G
ENST00000357037.5:c.*815A>G ENSP00000349541.4:n.*815A>G
NM_012232.5:c.*815A>G NP_036364.2:n.*815A>G
NM_012232.6:c.*815A>G MANE Select NP_036364.2:n.*815A>G