Canonical Allele Identifier: CA10644233
Gene: RFXAP HGNC NCBI
SMAD9 HGNC NCBI

Linked Data

ClinVar Variation Id: 311781
ClinVar RCV Id: RCV000343367
dbSNP Id: rs566055344
gnomAD v2: 13-37393394-T-G
gnomAD v3: 13-36819257-T-G
gnomAD v4: 13-36819257-T-G
MyVariant Identifiers: chr13:g.37393394T>G (hg19) chr13:g.36819257T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.36819257T>G , CM000675.2:g.36819257T>G GRCh38
NC_000013.10:g.37393394T>G , CM000675.1:g.37393394T>G GRCh37
NC_000013.9:g.36291394T>G NCBI36
NG_007876.1:g.5056T>G , LRG_103:g.5056T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000255476.3:c.-101T>G (RFXAP) MANE Select ENSP00000255476.3:n.-101T>G
ENST00000255476.2:c.-101T>G (RFXAP) ENSP00000255476.2:n.-101T>G
NM_000538.3:c.-101T>G , LRG_103t1:c.-101T>G (RFXAP) NP_000529.1:n.-101T>G
XM_011535096.1:c.1261-3116A>C (SMAD9) XP_011533398.1:n.1261-3116A>C
NM_000538.4:c.-101T>G (RFXAP) MANE Select NP_000529.1:n.-101T>G
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