Canonical Allele Identifier: CA399582745
Gene: CAVIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404832T>A , CM000679.2:g.42404832T>A GRCh38
NC_000017.10:g.40556850T>A , CM000679.1:g.40556850T>A GRCh37
NC_000017.9:g.37810376T>A NCBI36
NG_015845.1:g.23489A>T
NG_015845.2:g.23489A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1028A>T MANE Select ENSP00000349541.4:p.Glu343Val
ENST00000357037.5:c.1028A>T ENSP00000349541.4:p.Glu343Val
NM_012232.5:c.1028A>T NP_036364.2:p.Glu343Val
NM_012232.6:c.1028A>T MANE Select NP_036364.2:p.Glu343Val