Canonical Allele Identifier: CA379351951
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319234-C-G
MyVariant Identifiers: chr11:g.6340464C>G (hg19) chr11:g.6319234C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319234C>G , CM000673.2:g.6319234C>G GRCh38
NC_000011.9:g.6340464C>G , CM000673.1:g.6340464C>G GRCh37
NC_000011.8:g.6297040C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.715G>C MANE Select ENSP00000307292.3:p.Asp239His
ENST00000303927.3:c.715G>C ENSP00000307292.3:p.Asp239His
ENST00000524852.1:n.501G>C
ENST00000530979.1:c.811G>C ENSP00000432047.1:p.Asp271His
ENST00000532354.1:n.737G>C
NM_145040.2:c.715G>C NP_659477.2:p.Asp239His
XR_930997.1:n.720+1014C>G
XR_242848.4:n.94C>G
NM_145040.3:c.715G>C MANE Select NP_659477.2:p.Asp239His
Search 100 bp 5'
Search 100 bp 3'