Canonical Allele Identifier: CA2554052
Gene: ARHGAP31 HGNC NCBI

Linked Data

ClinVar Variation Id: 2053047
ClinVar RCV Id: RCV002918976 RCV002937913
dbSNP Id: rs201970872
ExAC: 3:119133273 C / T
gnomAD v2: 3-119133273-C-T
gnomAD v3: 3-119414426-C-T
gnomAD v4: 3-119414426-C-T
MyVariant Identifiers: chr3:g.119133273C>T (hg19) chr3:g.119414426C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119414426C>T , CM000665.2:g.119414426C>T GRCh38
NC_000003.11:g.119133273C>T , CM000665.1:g.119133273C>T GRCh37
NC_000003.10:g.120615963C>T NCBI36
NG_007665.2:g.125054C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.2497C>T MANE Select ENSP00000264245.4:p.Leu833Phe
ENST00000264245.8:c.2497C>T ENSP00000264245.4:p.Leu833Phe
NM_020754.3:c.2497C>T NP_065805.2:p.Leu833Phe
XM_005247671.3:c.2404C>T XP_005247728.1:p.Leu802Phe
XM_006713714.2:c.2437C>T XP_006713777.1:p.Leu813Phe
XM_006713714.3:c.2437C>T XP_006713777.1:p.Leu813Phe
XM_017006955.1:c.2005C>T XP_016862444.1:p.Leu669Phe
NM_020754.4:c.2497C>T MANE Select NP_065805.2:p.Leu833Phe
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