Canonical Allele Identifier: CA472908924
Gene: CAVIN3 HGNC NCBI

Linked Data

gnomAD v4: 11-6319439-C-A
MyVariant Identifiers: chr11:g.6340669C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6319439C>A , CM000673.2:g.6319439C>A GRCh38
NC_000011.9:g.6340669C>A , CM000673.1:g.6340669C>A GRCh37
NC_000011.8:g.6297245C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000303927.4:c.510G>T MANE Select ENSP00000307292.3:p.Pro170=
ENST00000303927.3:c.510G>T ENSP00000307292.3:p.Pro170=
ENST00000524852.1:n.296G>T
ENST00000530979.1:c.606G>T ENSP00000432047.1:p.Pro202=
ENST00000532354.1:n.532G>T
NM_145040.2:c.510G>T NP_659477.2:p.Pro170=
XR_930997.1:n.720+1219C>A
XR_001748106.1:n.50C>A
XR_242848.4:n.299C>A
NM_145040.3:c.510G>T MANE Select NP_659477.2:p.Pro170=
Search 100 bp 5'
Search 100 bp 3'