Canonical Allele Identifier: CA5388758

Gene: KLF6

Linked Data

• dbSNP Id: rs751230861
• ExAC: 10:3823959 C / T
• gnomAD v2: 10-3823959-C-T
• gnomAD v4: 10-3781767-C-T
• MyVariant Identifiers: chr10:g.3823959C>T (hg19) ; chr10:g.3781767C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.3781767C>T , CM000672.2:g.3781767C>T	GRCh38
NC_000010.10:g.3823959C>T , CM000672.1:g.3823959C>T	GRCh37
NC_000010.9:g.3813959C>T	NCBI36
NG_012277.1:g.8515G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000497571.6:c.550G>A MANE Select	ENSP00000419923.1:p.Gly184Ser
ENST00000173785.4:n.257+28G>A
ENST00000469435.1:c.550G>A	ENSP00000419079.1:p.Gly184Ser
ENST00000497571.5:c.550G>A	ENSP00000419923.1:p.Gly184Ser
ENST00000542957.1:c.550G>A	ENSP00000445301.1:p.Gly184Ser
NM_001160124.1:c.550G>A	NP_001153596.1:p.Gly184Arg
NM_001160125.1:c.550G>A	NP_001153597.1:p.Gly184Ser
NM_001300.5:c.550G>A	NP_001291.3:p.Gly184Ser
NR_027653.1:n.789+28G>A
NM_001300.6:c.550G>A MANE Select	NP_001291.3:p.Gly184Ser
NM_001160124.2:c.550G>A	NP_001153596.1:p.Gly184Arg
NR_027653.2:n.717+28G>A
NM_001160125.2:c.550G>A	NP_001153597.1:p.Gly184Ser