Canonical Allele Identifier: CA5852242
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs757534658
ExAC: 11:6340640 C / A
gnomAD v2: 11-6340640-C-A
gnomAD v4: 11-6319410-C-A
MyVariant Identifiers: chr11:g.6340640C>A (hg19) chr11:g.6319410C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319410C>A , CM000673.2:g.6319410C>A GRCh38
NC_000011.9:g.6340640C>A , CM000673.1:g.6340640C>A GRCh37
NC_000011.8:g.6297216C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.539G>T MANE Select ENSP00000307292.3:p.Arg180Leu
ENST00000303927.3:c.539G>T ENSP00000307292.3:p.Arg180Leu
ENST00000524852.1:n.325G>T
ENST00000530979.1:c.635G>T ENSP00000432047.1:p.Arg212Leu
ENST00000532354.1:n.561G>T
NM_145040.2:c.539G>T NP_659477.2:p.Arg180Leu
XR_930997.1:n.720+1190C>A
XR_001748106.1:n.21C>A
XR_242848.4:n.270C>A
NM_145040.3:c.539G>T MANE Select NP_659477.2:p.Arg180Leu
Search 100 bp 5'
Search 100 bp 3'