Canonical Allele Identifier: CA2260466830
Gene: CAVIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404820T= , CM000679.2:g.42404820T= GRCh38
NC_000017.10:g.40556838T= , CM000679.1:g.40556838T= GRCh37
NC_000017.9:g.37810364T= NCBI36
NG_015845.1:g.23501A=
NG_015845.2:g.23501A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1040A= MANE Select ENSP00000349541.4:p.Asp347=
ENST00000357037.5:c.1040A= ENSP00000349541.4:p.Asp347=
NM_012232.5:c.1040A= NP_036364.2:p.Asp347=
NM_012232.6:c.1040A= MANE Select NP_036364.2:p.Asp347=