Canonical Allele Identifier: CA379351964
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319240G>C , CM000673.2:g.6319240G>C GRCh38
NC_000011.9:g.6340470G>C , CM000673.1:g.6340470G>C GRCh37
NC_000011.8:g.6297046G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.709C>G MANE Select ENSP00000307292.3:p.Pro237Ala
ENST00000303927.3:c.709C>G ENSP00000307292.3:p.Pro237Ala
ENST00000524852.1:n.495C>G
ENST00000530979.1:c.805C>G ENSP00000432047.1:p.Pro269Ala
ENST00000532354.1:n.731C>G
NM_145040.2:c.709C>G NP_659477.2:p.Pro237Ala
XR_930997.1:n.720+1020G>C
XR_242848.4:n.100G>C
NM_145040.3:c.709C>G MANE Select NP_659477.2:p.Pro237Ala