Canonical Allele Identifier: CA2260466836
Gene: CAVIN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404830C= , CM000679.2:g.42404830C= GRCh38
NC_000017.10:g.40556848C= , CM000679.1:g.40556848C= GRCh37
NC_000017.9:g.37810374C= NCBI36
NG_015845.1:g.23491G=
NG_015845.2:g.23491G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1030G= MANE Select ENSP00000349541.4:p.Val344=
ENST00000357037.5:c.1030G= ENSP00000349541.4:p.Val344=
NM_012232.5:c.1030G= NP_036364.2:p.Val344=
NM_012232.6:c.1030G= MANE Select NP_036364.2:p.Val344=
Search 100 bp 5'
Search 100 bp 3'