Canonical Allele Identifier: CA451624769
Gene: RFX6 HGNC NCBI

Linked Data

gnomAD v4: 6-116882372-T-C
MyVariant Identifiers: chr6:g.117203535T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.116882372T>C , CM000668.2:g.116882372T>C GRCh38
NC_000006.11:g.117203535T>C , CM000668.1:g.117203535T>C GRCh37
NC_000006.10:g.117310228T>C NCBI36
NG_027699.1:g.10160T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000332958.3:c.510T>C MANE Select ENSP00000332208.2:p.Ile170=
ENST00000332958.2:c.510T>C ENSP00000332208.2:p.Ile170=
ENST00000487683.5:n.574T>C
NM_173560.3:c.510T>C NP_775831.2:p.Ile170=
XM_011535589.1:c.510T>C XP_011533891.1:p.Ile170=
XM_017010477.1:c.132T>C XP_016865966.1:p.Ile44=
NM_173560.4:c.510T>C MANE Select NP_775831.2:p.Ile170=
Search 100 bp 5'
Search 100 bp 3'