Canonical Allele Identifier: CA6950258
Gene: RFXAP HGNC NCBI
SMAD9 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.36825493A>G
GRCh37 chr13:g.37399630A>G
gnomAD v2:
13:37399630 A / G
gnomAD v3:
13:36825493 A / G
gnomAD v4:
chr13-36825493-A-G
Joint Max Group AF 0.00314884 (MID)
Genomes Max Group AF 0.00175194 (SAS)
Exomes Max Group AF 0.00330978 (MID)
ClinVar RCV:
RCV000369780
RCV001729522
ClinVar Variation:
311790
dbSNP:
139675642
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.36825493A>G , CM000675.2:g.36825493A>G GRCh38
NC_000013.10:g.37399630A>G , CM000675.1:g.37399630A>G GRCh37
NC_000013.9:g.36297630A>G NCBI36
NG_007876.1:g.11292A>G , LRG_103:g.11292A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255476.3:c.666A>G (RFXAP) MANE Select ENSP00000255476.3:p.Ala222=
ENST00000255476.2:c.666A>G (RFXAP) ENSP00000255476.2:p.Ala222=
ENST00000472888.1:n.68A>G (RFXAP)
NM_000538.3:c.666A>G , LRG_103t1:c.666A>G (RFXAP) NP_000529.1:p.Ala222=
XM_011535096.1:c.1261-9352T>C (SMAD9) XP_011533398.1:n.1261-9352T>C
NM_000538.4:c.666A>G (RFXAP) MANE Select NP_000529.1:p.Ala222=
Search 100 bp 5'
Search 100 bp 3'