Canonical Allele Identifier: CA2554034
Gene: ARHGAP31 HGNC NCBI

Linked Data

ClinVar Variation Id: 1307795
ClinVar RCV Id: RCV001772650 RCV002540325 RCV003401683
dbSNP Id: rs759404744
ExAC: 3:119133190 A / T
gnomAD v2: 3-119133190-A-T
gnomAD v3: 3-119414343-A-T
gnomAD v4: 3-119414343-A-T
COSMIC: COSM3119897
MyVariant Identifiers: chr3:g.119133190A>T (hg19) chr3:g.119414343A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119414343A>T , CM000665.2:g.119414343A>T GRCh38
NC_000003.11:g.119133190A>T , CM000665.1:g.119133190A>T GRCh37
NC_000003.10:g.120615880A>T NCBI36
NG_007665.2:g.124971A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.2414A>T MANE Select ENSP00000264245.4:p.Glu805Val
ENST00000264245.8:c.2414A>T ENSP00000264245.4:p.Glu805Val
NM_020754.3:c.2414A>T NP_065805.2:p.Glu805Val
XM_005247671.3:c.2321A>T XP_005247728.1:p.Glu774Val
XM_006713714.2:c.2354A>T XP_006713777.1:p.Glu785Val
XM_006713714.3:c.2354A>T XP_006713777.1:p.Glu785Val
XM_017006955.1:c.1922A>T XP_016862444.1:p.Glu641Val
NM_020754.4:c.2414A>T MANE Select NP_065805.2:p.Glu805Val
Search 100 bp 5'
Search 100 bp 3'