Canonical Allele Identifier: CA176147

Gene: GIPC3

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)

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