Canonical Allele Identifier: CA174792

Gene: PLEKHG4B

Linked Data

• ClinVar Variation Id: 161792
• ClinVar RCV Id: RCV000149328
• dbSNP Id: rs193920840
• ExAC: 5:156288 C / T
• gnomAD v2: 5-156288-C-T
• gnomAD v3: 5-156173-C-T
• gnomAD v4: 5-156173-C-T
• COSMIC: COSM1179718
• MyVariant Identifiers: chr5:g.156288C>T (hg19) ; chr5:g.156173C>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156173C>T , CM000667.2:g.156173C>T	GRCh38
NC_000005.9:g.156288C>T , CM000667.1:g.156288C>T	GRCh37
NC_000005.8:g.209288C>T	NCBI36
NG_054915.1:g.107159C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000637938.2:c.2311C>T MANE Select	ENSP00000490806.1:p.Arg771Trp
ENST00000283426.11:c.1243C>T	ENSP00000283426.6:p.Arg415Trp
ENST00000637938.1:c.2311C>T	ENSP00000490806.1:p.Arg771Trp
ENST00000283426.10:c.1243C>T	ENSP00000283426.6:p.Arg415Trp
ENST00000502646.1:c.985C>T	ENSP00000422493.1:p.Arg329Trp
NM_052909.3:c.1243C>T	NP_443141.3:p.Arg415Trp
XM_006714446.2:c.2311C>T	XP_006714509.1:p.Arg771Trp
XM_011513968.1:c.2311C>T	XP_011512270.1:p.Arg771Trp
XM_011513969.1:c.2188C>T	XP_011512271.1:p.Arg730Trp
XM_011513970.1:c.1852C>T	XP_011512272.1:p.Arg618Trp
XM_011513971.1:c.1852C>T	XP_011512273.1:p.Arg618Trp
XM_011513972.1:c.2311C>T	XP_011512274.1:p.Arg771Trp
XM_011513973.1:c.2311C>T	XP_011512275.1:p.Arg771Trp
NM_052909.4:c.2311C>T	NP_443141.4:p.Arg771Trp
XM_011513968.3:c.2311C>T	XP_011512270.1:p.Arg771Trp
XM_011513969.3:c.2188C>T	XP_011512271.1:p.Arg730Trp
XM_011513970.2:c.1852C>T	XP_011512272.1:p.Arg618Trp
XM_017009112.2:c.2311C>T	XP_016864601.1:p.Arg771Trp
XR_001742015.2:n.2433C>T
NM_052909.5:c.2311C>T MANE Select	NP_443141.4:p.Arg771Trp