Canonical Allele Identifier: CA5388739

Gene: KLF6

Linked Data

• dbSNP Id: rs752309022
• ExAC: 10:3823849 G / A
• gnomAD v2: 10-3823849-G-A
• gnomAD v3: 10-3781657-G-A
• gnomAD v4: 10-3781657-G-A
• MyVariant Identifiers: chr10:g.3823849G>A (hg19) ; chr10:g.3781657G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.3781657G>A , CM000672.2:g.3781657G>A	GRCh38
NC_000010.10:g.3823849G>A , CM000672.1:g.3823849G>A	GRCh37
NC_000010.9:g.3813849G>A	NCBI36
NG_012277.1:g.8625C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000497571.6:c.660C>T MANE Select	ENSP00000419923.1:p.His220=
ENST00000173785.4:n.257+138C>T
ENST00000469435.1:c.660C>T	ENSP00000419079.1:p.His220=
ENST00000497571.5:c.660C>T	ENSP00000419923.1:p.His220=
ENST00000542957.1:c.660C>T	ENSP00000445301.1:p.His220=
NM_001160124.1:c.550+110C>T	NP_001153596.1:n.550+110C>T
NM_001160125.1:c.660C>T	NP_001153597.1:p.His220=
NM_001300.5:c.660C>T	NP_001291.3:p.His220=
NR_027653.1:n.789+138C>T
NM_001300.6:c.660C>T MANE Select	NP_001291.3:p.His220=
NM_001160124.2:c.550+110C>T	NP_001153596.1:n.550+110C>T
NR_027653.2:n.717+138C>T
NM_001160125.2:c.660C>T	NP_001153597.1:p.His220=