Canonical Allele Identifier: CA6950195

Gene: RFXAP SMAD9

Linked Data

• ClinVar Variation Id: 311785
• ClinVar RCV Id: RCV000404296 ; RCV003391118
• dbSNP Id: rs373233313
• ExAC: 13:37393806 C / T
• gnomAD v2: 13-37393806-C-T
• gnomAD v3: 13-36819669-C-T
• gnomAD v4: 13-36819669-C-T
• MyVariant Identifiers: chr13:g.37393806C>T (hg19) ; chr13:g.36819669C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36819669C>T , CM000675.2:g.36819669C>T	GRCh38
NC_000013.10:g.37393806C>T , CM000675.1:g.37393806C>T	GRCh37
NC_000013.9:g.36291806C>T	NCBI36
NG_007876.1:g.5468C>T , LRG_103:g.5468C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255476.3:c.312C>T (RFXAP) MANE Select	ENSP00000255476.3:p.Ser104=
ENST00000255476.2:c.312C>T (RFXAP)	ENSP00000255476.2:p.Ser104=
NM_000538.3:c.312C>T , LRG_103t1:c.312C>T (RFXAP)	NP_000529.1:p.Ser104=
XM_011535096.1:c.1261-3528G>A (SMAD9)	XP_011533398.1:n.1261-3528G>A
NM_000538.4:c.312C>T (RFXAP) MANE Select	NP_000529.1:p.Ser104=