Canonical Allele Identifier: CA399582698
Gene: CAVIN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404819G>T , CM000679.2:g.42404819G>T GRCh38
NC_000017.10:g.40556837G>T , CM000679.1:g.40556837G>T GRCh37
NC_000017.9:g.37810363G>T NCBI36
NG_015845.1:g.23502C>A
NG_015845.2:g.23502C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1041C>A MANE Select ENSP00000349541.4:p.Asp347Glu
ENST00000357037.5:c.1041C>A ENSP00000349541.4:p.Asp347Glu
NM_012232.5:c.1041C>A NP_036364.2:p.Asp347Glu
NM_012232.6:c.1041C>A MANE Select NP_036364.2:p.Asp347Glu