Canonical Allele Identifier: CA379351844
Gene: CAVIN3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319201C>T , CM000673.2:g.6319201C>T GRCh38
NC_000011.9:g.6340431C>T , CM000673.1:g.6340431C>T GRCh37
NC_000011.8:g.6297007C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.748G>A MANE Select ENSP00000307292.3:p.Ala250Thr
ENST00000303927.3:c.748G>A ENSP00000307292.3:p.Ala250Thr
ENST00000524852.1:n.534G>A
ENST00000530979.1:c.844G>A ENSP00000432047.1:p.Ala282Thr
ENST00000532354.1:n.770G>A
NM_145040.2:c.748G>A NP_659477.2:p.Ala250Thr
XR_930997.1:n.720+981C>T
XR_242848.4:n.61C>T
NM_145040.3:c.748G>A MANE Select NP_659477.2:p.Ala250Thr