Canonical Allele Identifier: CA174872

Gene: ARHGEF15

Linked Data

• ClinVar Variation Id: 161833
• ClinVar RCV Id: RCV000149369
• dbSNP Id: rs193921031
• ExAC: 17:8222092 C / T
• gnomAD v2: 17-8222092-C-T
• gnomAD v3: 17-8318774-C-T
• gnomAD v4: 17-8318774-C-T
• COSMIC: COSM1179027
• MyVariant Identifiers: chr17:g.8222092C>T (hg19) ; chr17:g.8318774C>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8318774C>T , CM000679.2:g.8318774C>T	GRCh38
NC_000017.10:g.8222092C>T , CM000679.1:g.8222092C>T	GRCh37
NC_000017.9:g.8162817C>T	NCBI36
NG_034063.1:g.13537C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361926.8:c.1897C>T MANE Select	ENSP00000355026.3:p.Arg633Trp
ENST00000647883.1:c.1360C>T	ENSP00000498197.1:p.Arg454Trp
ENST00000361926.7:c.1897C>T	ENSP00000355026.3:p.Arg633Trp
ENST00000421050.2:c.1897C>T	ENSP00000412505.1:p.Arg633Trp
ENST00000582060.1:n.9C>T
NM_025014.1:c.1897C>T	NP_079290.1:p.Arg633Trp
NM_173728.3:c.1897C>T	NP_776089.2:p.Arg633Trp
XM_011523734.1:c.1942C>T	XP_011522036.1:p.Arg648Trp
XM_011523735.1:c.1942C>T	XP_011522037.1:p.Arg648Trp
XM_011523736.1:c.1942C>T	XP_011522038.1:p.Arg648Trp
XM_011523737.1:c.691C>T	XP_011522039.1:p.Arg231Trp
XM_011523734.2:c.1942C>T	XP_011522036.1:p.Arg648Trp
XM_011523736.2:c.1942C>T	XP_011522038.1:p.Arg648Trp
NM_173728.4:c.1897C>T MANE Select	NP_776089.2:p.Arg633Trp
NM_025014.2:c.1897C>T	NP_079290.1:p.Arg633Trp