Canonical Allele Identifier: CA399582653
Gene: CAVIN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3137858
ClinVar RCV Id: RCV004430170

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404811T>G , CM000679.2:g.42404811T>G GRCh38
NC_000017.10:g.40556829T>G , CM000679.1:g.40556829T>G GRCh37
NC_000017.9:g.37810355T>G NCBI36
NG_015845.1:g.23510A>C
NG_015845.2:g.23510A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1049A>C MANE Select ENSP00000349541.4:p.Glu350Ala
ENST00000357037.5:c.1049A>C ENSP00000349541.4:p.Glu350Ala
NM_012232.5:c.1049A>C NP_036364.2:p.Glu350Ala
NM_012232.6:c.1049A>C MANE Select NP_036364.2:p.Glu350Ala