Canonical Allele Identifier: CA2553540

Gene: ARHGAP31

Linked Data

• ClinVar Variation Id: 1616235
• ClinVar RCV Id: RCV002084157
• dbSNP Id: rs765104598
• ExAC: 3:119099739 T / C
• gnomAD v2: 3-119099739-T-C
• gnomAD v3: 3-119380892-T-C
• gnomAD v4: 3-119380892-T-C
• MyVariant Identifiers: chr3:g.119099739T>C (hg19) ; chr3:g.119380892T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.119380892T>C , CM000665.2:g.119380892T>C	GRCh38
NC_000003.11:g.119099739T>C , CM000665.1:g.119099739T>C	GRCh37
NC_000003.10:g.120582429T>C	NCBI36
NG_007665.2:g.91520T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264245.9:c.349-12T>C MANE Select	ENSP00000264245.4:n.349-12T>C
ENST00000264245.8:c.349-12T>C	ENSP00000264245.4:n.349-12T>C
ENST00000482743.1:c.262-12T>C	ENSP00000418429.1:n.262-12T>C
NM_020754.3:c.349-12T>C	NP_065805.2:n.349-12T>C
XM_005247671.3:c.256-12T>C	XP_005247728.1:n.256-12T>C
XM_006713714.2:c.349-12T>C	XP_006713777.1:n.349-12T>C
XM_006713714.3:c.349-12T>C	XP_006713777.1:n.349-12T>C
XM_017006955.1:c.-144-12T>C	XP_016862444.1:n.-144-12T>C
NM_020754.4:c.349-12T>C MANE Select	NP_065805.2:n.349-12T>C