Canonical Allele Identifier: CA5388824

Gene: KLF6

Linked Data

• dbSNP Id: rs753610916
• ExAC: 10:3824277 C / T
• gnomAD v2: 10-3824277-C-T
• gnomAD v4: 10-3782085-C-T
• COSMIC: COSM41205 ; COSM3415027
• MyVariant Identifiers: chr10:g.3824277C>T (hg19) ; chr10:g.3782085C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.3782085C>T , CM000672.2:g.3782085C>T	GRCh38
NC_000010.10:g.3824277C>T , CM000672.1:g.3824277C>T	GRCh37
NC_000010.9:g.3814277C>T	NCBI36
NG_012277.1:g.8197G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000497571.6:c.232G>A MANE Select	ENSP00000419923.1:p.Glu78Lys
ENST00000380946.3:n.467G>A
ENST00000469435.1:c.232G>A	ENSP00000419079.1:p.Glu78Lys
ENST00000497571.5:c.232G>A	ENSP00000419923.1:p.Glu78Lys
ENST00000542957.1:c.232G>A	ENSP00000445301.1:p.Glu78Lys
NM_001160124.1:c.232G>A	NP_001153596.1:p.Glu78Lys
NM_001160125.1:c.232G>A	NP_001153597.1:p.Glu78Lys
NM_001300.5:c.232G>A	NP_001291.3:p.Glu78Lys
NR_027653.1:n.499G>A
NM_001300.6:c.232G>A MANE Select	NP_001291.3:p.Glu78Lys
NM_001160124.2:c.232G>A	NP_001153596.1:p.Glu78Lys
NR_027653.2:n.427G>A
NM_001160125.2:c.232G>A	NP_001153597.1:p.Glu78Lys