Canonical Allele Identifier: CA160383

Gene: KLF6

Linked Data

• ClinVar Variation Id: 134632
• ClinVar RCV Id: RCV000121325
• dbSNP Id: rs587778436
• ExAC: 10:3824233 G / T
• gnomAD v4: 10-3782041-G-T
• MyVariant Identifiers: chr10:g.3824233G>T (hg19) ; chr10:g.3782041G>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.3782041G>T , CM000672.2:g.3782041G>T	GRCh38
NC_000010.10:g.3824233G>T , CM000672.1:g.3824233G>T	GRCh37
NC_000010.9:g.3814233G>T	NCBI36
NG_012277.1:g.8241C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000497571.6:c.276C>A MANE Select	ENSP00000419923.1:p.Ser92Arg
ENST00000173785.4:n.11C>A
ENST00000380946.3:n.511C>A
ENST00000469435.1:c.276C>A	ENSP00000419079.1:p.Ser92Arg
ENST00000497571.5:c.276C>A	ENSP00000419923.1:p.Ser92Arg
ENST00000542957.1:c.276C>A	ENSP00000445301.1:p.Ser92Arg
NM_001160124.1:c.276C>A	NP_001153596.1:p.Ser92Arg
NM_001160125.1:c.276C>A	NP_001153597.1:p.Ser92Arg
NM_001300.5:c.276C>A	NP_001291.3:p.Ser92Arg
NR_027653.1:n.543C>A
NM_001300.6:c.276C>A MANE Select	NP_001291.3:p.Ser92Arg
NM_001160124.2:c.276C>A	NP_001153596.1:p.Ser92Arg
NR_027653.2:n.471C>A
NM_001160125.2:c.276C>A	NP_001153597.1:p.Ser92Arg