Canonical Allele Identifier: CA2553952
Gene: ARHGAP31 HGNC NCBI

Linked Data

ClinVar Variation Id: 342654
ClinVar RCV Id: RCV000900427 RCV002520071
dbSNP Id: rs61736796
ExAC: 3:119132812 C / T
gnomAD v2: 3-119132812-C-T
gnomAD v3: 3-119413965-C-T
gnomAD v4: 3-119413965-C-T
MyVariant Identifiers: chr3:g.119132812C>T (hg19) chr3:g.119413965C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119413965C>T , CM000665.2:g.119413965C>T GRCh38
NC_000003.11:g.119132812C>T , CM000665.1:g.119132812C>T GRCh37
NC_000003.10:g.120615502C>T NCBI36
NG_007665.2:g.124593C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.2036C>T MANE Select ENSP00000264245.4:p.Thr679Ile
ENST00000264245.8:c.2036C>T ENSP00000264245.4:p.Thr679Ile
NM_020754.3:c.2036C>T NP_065805.2:p.Thr679Ile
XM_005247671.3:c.1943C>T XP_005247728.1:p.Thr648Ile
XM_006713714.2:c.1976C>T XP_006713777.1:p.Thr659Ile
XM_006713714.3:c.1976C>T XP_006713777.1:p.Thr659Ile
XM_017006955.1:c.1544C>T XP_016862444.1:p.Thr515Ile
NM_020754.4:c.2036C>T MANE Select NP_065805.2:p.Thr679Ile
Search 100 bp 5'
Search 100 bp 3'