Canonical Allele Identifier: CA2260466069
Gene: CAVIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42403113G= , CM000679.2:g.42403113G= GRCh38
NC_000017.10:g.40555131G= , CM000679.1:g.40555131G= GRCh37
NC_000017.9:g.37808657G= NCBI36
NG_015845.1:g.25208C=
NG_015845.2:g.25208C=

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*1574C= MANE Select ENSP00000349541.4:n.*1574C=
ENST00000357037.5:c.*1574C= ENSP00000349541.4:n.*1574C=
NM_012232.5:c.*1574C= NP_036364.2:n.*1574C=
NM_012232.6:c.*1574C= MANE Select NP_036364.2:n.*1574C=