Canonical Allele Identifier: CA365427978

Gene: RFX6

Linked Data

• MyVariant Identifiers: chr6:g.117203539C>T (hg19) ; chr6:g.116882376C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.116882376C>T , CM000668.2:g.116882376C>T	GRCh38
NC_000006.11:g.117203539C>T , CM000668.1:g.117203539C>T	GRCh37
NC_000006.10:g.117310232C>T	NCBI36
NG_027699.1:g.10164C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000332958.3:c.514C>T MANE Select	ENSP00000332208.2:p.Gln172Ter
ENST00000332958.2:c.514C>T	ENSP00000332208.2:p.Gln172Ter
ENST00000487683.5:n.578C>T
NM_173560.3:c.514C>T	NP_775831.2:p.Gln172Ter
XM_011535589.1:c.514C>T	XP_011533891.1:p.Gln172Ter
XM_017010477.1:c.136C>T	XP_016865966.1:p.Gln46Ter
NM_173560.4:c.514C>T MANE Select	NP_775831.2:p.Gln172Ter