Canonical Allele Identifier: CA5852244
Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs746260843
ExAC: 11:6340654 G / A
gnomAD v2: 11-6340654-G-A
gnomAD v3: 11-6319424-G-A
gnomAD v4: 11-6319424-G-A
MyVariant Identifiers: chr11:g.6340654G>A (hg19) chr11:g.6319424G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319424G>A , CM000673.2:g.6319424G>A GRCh38
NC_000011.9:g.6340654G>A , CM000673.1:g.6340654G>A GRCh37
NC_000011.8:g.6297230G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.525C>T MANE Select ENSP00000307292.3:p.Ala175=
ENST00000303927.3:c.525C>T ENSP00000307292.3:p.Ala175=
ENST00000524852.1:n.311C>T
ENST00000530979.1:c.621C>T ENSP00000432047.1:p.Ala207=
ENST00000532354.1:n.547C>T
NM_145040.2:c.525C>T NP_659477.2:p.Ala175=
XR_930997.1:n.720+1204G>A
XR_001748106.1:n.35G>A
XR_242848.4:n.284G>A
NM_145040.3:c.525C>T MANE Select NP_659477.2:p.Ala175=
Search 100 bp 5'
Search 100 bp 3'