Canonical Allele Identifier: CA2260466829
Gene: CAVIN1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404819G= , CM000679.2:g.42404819G= GRCh38
NC_000017.10:g.40556837G= , CM000679.1:g.40556837G= GRCh37
NC_000017.9:g.37810363G= NCBI36
NG_015845.1:g.23502C=
NG_015845.2:g.23502C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1041C= MANE Select ENSP00000349541.4:p.Asp347=
ENST00000357037.5:c.1041C= ENSP00000349541.4:p.Asp347=
NM_012232.5:c.1041C= NP_036364.2:p.Asp347=
NM_012232.6:c.1041C= MANE Select NP_036364.2:p.Asp347=
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