Canonical Allele Identifier: CA354051474
Gene: ARHGAP31 HGNC NCBI

Linked Data

ClinVar Variation Id: 1683707
ClinVar RCV Id: RCV002244228
dbSNP Id: rs1395872373
gnomAD v4: 3-119414400-C-T
MyVariant Identifiers: chr3:g.119133247C>T (hg19) chr3:g.119414400C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119414400C>T , CM000665.2:g.119414400C>T GRCh38
NC_000003.11:g.119133247C>T , CM000665.1:g.119133247C>T GRCh37
NC_000003.10:g.120615937C>T NCBI36
NG_007665.2:g.125028C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.2471C>T MANE Select ENSP00000264245.4:p.Ser824Phe
ENST00000264245.8:c.2471C>T ENSP00000264245.4:p.Ser824Phe
NM_020754.3:c.2471C>T NP_065805.2:p.Ser824Phe
XM_005247671.3:c.2378C>T XP_005247728.1:p.Ser793Phe
XM_006713714.2:c.2411C>T XP_006713777.1:p.Ser804Phe
XM_006713714.3:c.2411C>T XP_006713777.1:p.Ser804Phe
XM_017006955.1:c.1979C>T XP_016862444.1:p.Ser660Phe
NM_020754.4:c.2471C>T MANE Select NP_065805.2:p.Ser824Phe
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