Canonical Allele Identifier: CA2260466827
Gene: CAVIN1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404813G= , CM000679.2:g.42404813G= GRCh38
NC_000017.10:g.40556831G= , CM000679.1:g.40556831G= GRCh37
NC_000017.9:g.37810357G= NCBI36
NG_015845.1:g.23508C=
NG_015845.2:g.23508C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1047C= MANE Select ENSP00000349541.4:p.Asp349=
ENST00000357037.5:c.1047C= ENSP00000349541.4:p.Asp349=
NM_012232.5:c.1047C= NP_036364.2:p.Asp349=
NM_012232.6:c.1047C= MANE Select NP_036364.2:p.Asp349=
Search 100 bp 5'
Search 100 bp 3'