Canonical Allele Identifier: CA145941817
Gene: RFX6 HGNC NCBI

Linked Data

dbSNP Id: rs903009640
gnomAD v3: 6-116882439-A-G
gnomAD v4: 6-116882439-A-G
MyVariant Identifiers: chr6:g.117203602A>G (hg19) chr6:g.116882439A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116882439A>G , CM000668.2:g.116882439A>G GRCh38
NC_000006.11:g.117203602A>G , CM000668.1:g.117203602A>G GRCh37
NC_000006.10:g.117310295A>G NCBI36
NG_027699.1:g.10227A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000332958.3:c.566+11A>G MANE Select ENSP00000332208.2:n.566+11A>G
ENST00000332958.2:c.566+11A>G ENSP00000332208.2:n.566+11A>G
ENST00000487683.5:n.630+11A>G
NM_173560.3:c.566+11A>G NP_775831.2:n.566+11A>G
XM_011535589.1:c.566+11A>G XP_011533891.1:n.566+11A>G
XM_017010477.1:c.188+11A>G XP_016865966.1:n.188+11A>G
NM_173560.4:c.566+11A>G MANE Select NP_775831.2:n.566+11A>G
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