Canonical Allele Identifier: CA81697267
Gene: ARHGAP31 HGNC NCBI

Linked Data

ClinVar Variation Id: 2400699
ClinVar RCV Id: RCV002734655
dbSNP Id: rs1024449945
gnomAD v2: 3-119132716-T-C
gnomAD v3: 3-119413869-T-C
gnomAD v4: 3-119413869-T-C
MyVariant Identifiers: chr3:g.119132716T>C (hg19) chr3:g.119413869T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119413869T>C , CM000665.2:g.119413869T>C GRCh38
NC_000003.11:g.119132716T>C , CM000665.1:g.119132716T>C GRCh37
NC_000003.10:g.120615406T>C NCBI36
NG_007665.2:g.124497T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.1940T>C MANE Select ENSP00000264245.4:p.Leu647Pro
ENST00000264245.8:c.1940T>C ENSP00000264245.4:p.Leu647Pro
NM_020754.3:c.1940T>C NP_065805.2:p.Leu647Pro
XM_005247671.3:c.1847T>C XP_005247728.1:p.Leu616Pro
XM_006713714.2:c.1880T>C XP_006713777.1:p.Leu627Pro
XM_006713714.3:c.1880T>C XP_006713777.1:p.Leu627Pro
XM_017006955.1:c.1448T>C XP_016862444.1:p.Leu483Pro
NM_020754.4:c.1940T>C MANE Select NP_065805.2:p.Leu647Pro
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