Canonical Allele Identifier: CA2260466627
Gene: CAVIN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404401A= , CM000679.2:g.42404401A= GRCh38
NC_000017.10:g.40556419A= , CM000679.1:g.40556419A= GRCh37
NC_000017.9:g.37809945A= NCBI36
NG_015845.1:g.23920T=
NG_015845.2:g.23920T=

Transcript Alleles

HGVS Amino-acid change
ENST00000357037.6:c.*286T= MANE Select ENSP00000349541.4:n.*286T=
ENST00000357037.5:c.*286T= ENSP00000349541.4:n.*286T=
NM_012232.5:c.*286T= NP_036364.2:n.*286T=
NM_012232.6:c.*286T= MANE Select NP_036364.2:n.*286T=