Canonical Allele Identifier: CA145941725

Gene: RFX6

Linked Data

• dbSNP Id: rs941303163
• gnomAD v4: 6-116882344-A-T
• MyVariant Identifiers: chr6:g.117203507A>T (hg19) ; chr6:g.116882344A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116882344A>T , CM000668.2:g.116882344A>T	GRCh38
NC_000006.11:g.117203507A>T , CM000668.1:g.117203507A>T	GRCh37
NC_000006.10:g.117310200A>T	NCBI36
NG_027699.1:g.10132A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332958.3:c.505-23A>T MANE Select	ENSP00000332208.2:n.505-23A>T
ENST00000332958.2:c.505-23A>T	ENSP00000332208.2:n.505-23A>T
ENST00000487683.5:n.569-23A>T
NM_173560.3:c.505-23A>T	NP_775831.2:n.505-23A>T
XM_011535589.1:c.505-23A>T	XP_011533891.1:n.505-23A>T
XM_017010477.1:c.127-23A>T	XP_016865966.1:n.127-23A>T
NM_173560.4:c.505-23A>T MANE Select	NP_775831.2:n.505-23A>T