Canonical Allele Identifier: CA176147
Gene: GIPC3 HGNC NCBI

Linked Data

ClinVar Variation Id: 163506
ClinVar RCV Id: RCV000150722 RCV001850049 RCV002516026
dbSNP Id: rs141293401
ExAC: 19:3586840 G / A
gnomAD v2: 19-3586840-G-A
gnomAD v3: 19-3586842-G-A
gnomAD v4: 19-3586842-G-A
COSMIC: COSM711984
MyVariant Identifiers: chr19:g.3586840G>A (hg19) chr19:g.3586842G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3586842G>A , CM000681.2:g.3586842G>A GRCh38
NC_000019.9:g.3586840G>A , CM000681.1:g.3586840G>A GRCh37
NC_000019.8:g.3537840G>A NCBI36
NG_031943.1:g.6272G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644452.3:c.440G>A MANE Select ENSP00000493901.2:p.Arg147Gln
ENST00000644946.1:c.440G>A ENSP00000495068.1:p.Arg147Gln
ENST00000322315.5:c.440G>A ENSP00000319254.5:p.Arg147Gln
NM_133261.2:c.440G>A NP_573568.1:p.Arg147Gln
XM_005259492.2:c.440G>A XP_005259549.1:p.Arg147Gln
XM_005259492.3:c.440G>A XP_005259549.1:p.Arg147Gln
NM_133261.3:c.440G>A MANE Select NP_573568.1:p.Arg147Gln
Search 100 bp 5'
Search 100 bp 3'