Canonical Allele Identifier: CA500215501
Gene: CAVIN1 HGNC NCBI

Linked Data

gnomAD v4: 17-42404789-C-T
MyVariant Identifiers: chr17:g.40556807C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42404789C>T , CM000679.2:g.42404789C>T GRCh38
NC_000017.10:g.40556807C>T , CM000679.1:g.40556807C>T GRCh37
NC_000017.9:g.37810333C>T NCBI36
NG_015845.1:g.23532G>A
NG_015845.2:g.23532G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357037.6:c.1071G>A MANE Select ENSP00000349541.4:p.Glu357=
ENST00000357037.5:c.1071G>A ENSP00000349541.4:p.Glu357=
NM_012232.5:c.1071G>A NP_036364.2:p.Glu357=
NM_012232.6:c.1071G>A MANE Select NP_036364.2:p.Glu357=
Search 100 bp 5'
Search 100 bp 3'