Canonical Allele Identifier: CA2553440

Gene: ARHGAP31

Linked Data

• ClinVar Variation Id: 342626
• ClinVar RCV Id: RCV000917613 ; RCV003932381
• dbSNP Id: rs76783588
• ExAC: 3:119013860 C / T
• gnomAD v2: 3-119013860-C-T
• gnomAD v3: 3-119295013-C-T
• gnomAD v4: 3-119295013-C-T
• MyVariant Identifiers: chr3:g.119013860C>T (hg19) ; chr3:g.119295013C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119295013C>T , CM000665.2:g.119295013C>T	GRCh38
NC_000003.11:g.119013860C>T , CM000665.1:g.119013860C>T	GRCh37
NC_000003.10:g.120496550C>T	NCBI36
NG_007665.2:g.5641C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264245.9:c.100+9C>T MANE Select	ENSP00000264245.4:n.100+9C>T
ENST00000264245.8:c.100+9C>T	ENSP00000264245.4:n.100+9C>T
NM_020754.3:c.100+9C>T	NP_065805.2:n.100+9C>T
XM_006713714.2:c.100+9C>T	XP_006713777.1:n.100+9C>T
XM_006713714.3:c.100+9C>T	XP_006713777.1:n.100+9C>T
XM_017006955.1:c.-248+9C>T	XP_016862444.1:n.-248+9C>T
NM_020754.4:c.100+9C>T MANE Select	NP_065805.2:n.100+9C>T