Canonical Allele Identifier: CA354050766
Gene: ARHGAP31 HGNC NCBI

Linked Data

ClinVar Variation Id: 2484243
ClinVar RCV Id: RCV003216912
dbSNP Id: rs1389287145
gnomAD v3: 3-119414285-C-T
gnomAD v4: 3-119414285-C-T
MyVariant Identifiers: chr3:g.119133132C>T (hg19) chr3:g.119414285C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119414285C>T , CM000665.2:g.119414285C>T GRCh38
NC_000003.11:g.119133132C>T , CM000665.1:g.119133132C>T GRCh37
NC_000003.10:g.120615822C>T NCBI36
NG_007665.2:g.124913C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264245.9:c.2356C>T MANE Select ENSP00000264245.4:p.Pro786Ser
ENST00000264245.8:c.2356C>T ENSP00000264245.4:p.Pro786Ser
NM_020754.3:c.2356C>T NP_065805.2:p.Pro786Ser
XM_005247671.3:c.2263C>T XP_005247728.1:p.Pro755Ser
XM_006713714.2:c.2296C>T XP_006713777.1:p.Pro766Ser
XM_006713714.3:c.2296C>T XP_006713777.1:p.Pro766Ser
XM_017006955.1:c.1864C>T XP_016862444.1:p.Pro622Ser
NM_020754.4:c.2356C>T MANE Select NP_065805.2:p.Pro786Ser
Search 100 bp 5'
Search 100 bp 3'