Canonical Allele Identifier: CA472720393
Gene: CAVIN3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.6340507G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319277G>C , CM000673.2:g.6319277G>C GRCh38
NC_000011.9:g.6340507G>C , CM000673.1:g.6340507G>C GRCh37
NC_000011.8:g.6297083G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.672C>G MANE Select ENSP00000307292.3:p.Ala224=
ENST00000303927.3:c.672C>G ENSP00000307292.3:p.Ala224=
ENST00000524852.1:n.458C>G
ENST00000530979.1:c.768C>G ENSP00000432047.1:p.Ala256=
ENST00000532354.1:n.694C>G
NM_145040.2:c.672C>G NP_659477.2:p.Ala224=
XR_930997.1:n.720+1057G>C
XR_242848.4:n.137G>C
NM_145040.3:c.672C>G MANE Select NP_659477.2:p.Ala224=
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