Canonical Allele Identifier: CA5852200
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs371948974
ExAC: 11:6340488 T / C
gnomAD v2: 11-6340488-T-C
gnomAD v3: 11-6319258-T-C
gnomAD v4: 11-6319258-T-C
MyVariant Identifiers: chr11:g.6340488T>C (hg19) chr11:g.6319258T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319258T>C , CM000673.2:g.6319258T>C GRCh38
NC_000011.9:g.6340488T>C , CM000673.1:g.6340488T>C GRCh37
NC_000011.8:g.6297064T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.691A>G MANE Select ENSP00000307292.3:p.Thr231Ala
ENST00000303927.3:c.691A>G ENSP00000307292.3:p.Thr231Ala
ENST00000524852.1:n.477A>G
ENST00000530979.1:c.787A>G ENSP00000432047.1:p.Thr263Ala
ENST00000532354.1:n.713A>G
NM_145040.2:c.691A>G NP_659477.2:p.Thr231Ala
XR_930997.1:n.720+1038T>C
XR_242848.4:n.118T>C
NM_145040.3:c.691A>G MANE Select NP_659477.2:p.Thr231Ala
Search 100 bp 5'
Search 100 bp 3'