Canonical Allele Identifier: CA2578723016
Gene: RFX6 HGNC NCBI

Linked Data

gnomAD v4: 6-116882287-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116882287T>C , CM000668.2:g.116882287T>C GRCh38
NC_000006.11:g.117203450T>C , CM000668.1:g.117203450T>C GRCh37
NC_000006.10:g.117310143T>C NCBI36
NG_027699.1:g.10075T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332958.3:c.505-80T>C MANE Select ENSP00000332208.2:n.505-80T>C
ENST00000332958.2:c.505-80T>C ENSP00000332208.2:n.505-80T>C
ENST00000487683.5:n.569-80T>C
NM_173560.3:c.505-80T>C NP_775831.2:n.505-80T>C
XM_011535589.1:c.505-80T>C XP_011533891.1:n.505-80T>C
XM_017010477.1:c.127-80T>C XP_016865966.1:n.127-80T>C
NM_173560.4:c.505-80T>C MANE Select NP_775831.2:n.505-80T>C
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