Canonical Allele Identifier: CA387852269
Gene: RFXAP HGNC NCBI
SMAD9 HGNC NCBI
MyVariant.info:
GRCh38 chr13:g.36819484C>T
GRCh37 chr13:g.37393621C>T
gnomAD v2:
13:37393621 C / T
gnomAD v3:
13:36819484 C / T
gnomAD v4:
chr13-36819484-C-T
Joint Max Group AF 0.00003166 (NFE)
Genomes Max Group AF 0.00001172 (NFE)
Exomes Max Group AF 0.00003099 (NFE)
ClinVar RCV:
RCV000686231
RCV002282326
ClinVar Variation:
566425
dbSNP:
1313207845
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.36819484C>T , CM000675.2:g.36819484C>T GRCh38
NC_000013.10:g.37393621C>T , CM000675.1:g.37393621C>T GRCh37
NC_000013.9:g.36291621C>T NCBI36
NG_007876.1:g.5283C>T , LRG_103:g.5283C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000255476.3:c.127C>T (RFXAP) MANE Select ENSP00000255476.3:p.Gln43Ter
ENST00000255476.2:c.127C>T (RFXAP) ENSP00000255476.2:p.Gln43Ter
NM_000538.3:c.127C>T , LRG_103t1:c.127C>T (RFXAP) NP_000529.1:p.Gln43Ter
XM_011535096.1:c.1261-3343G>A (SMAD9) XP_011533398.1:n.1261-3343G>A
NM_000538.4:c.127C>T (RFXAP) MANE Select NP_000529.1:p.Gln43Ter
Search 100 bp 5'
Search 100 bp 3'