Canonical Allele Identifier: CA399582701
Gene: CAVIN1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1040A>G MANE Select ENSP00000349541.4:p.Asp347Gly
ENST00000357037.5:c.1040A>G ENSP00000349541.4:p.Asp347Gly
NM_012232.5:c.1040A>G NP_036364.2:p.Asp347Gly
NM_012232.6:c.1040A>G MANE Select NP_036364.2:p.Asp347Gly