Canonical Allele Identifier: CA5388799

Gene: KLF6

Linked Data

• dbSNP Id: rs144914426
• ExAC: 10:3824144 G / C
• gnomAD v2: 10-3824144-G-C
• gnomAD v3: 10-3781952-G-C
• gnomAD v4: 10-3781952-G-C
• MyVariant Identifiers: chr10:g.3824144G>C (hg19) ; chr10:g.3781952G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.3781952G>C , CM000672.2:g.3781952G>C	GRCh38
NC_000010.10:g.3824144G>C , CM000672.1:g.3824144G>C	GRCh37
NC_000010.9:g.3814144G>C	NCBI36
NG_012277.1:g.8330C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000497571.6:c.365C>G MANE Select	ENSP00000419923.1:p.Thr122Arg
ENST00000173785.4:n.100C>G
ENST00000380946.3:n.600C>G
ENST00000469435.1:c.365C>G	ENSP00000419079.1:p.Thr122Arg
ENST00000497571.5:c.365C>G	ENSP00000419923.1:p.Thr122Arg
ENST00000542957.1:c.365C>G	ENSP00000445301.1:p.Thr122Arg
NM_001160124.1:c.365C>G	NP_001153596.1:p.Thr122Arg
NM_001160125.1:c.365C>G	NP_001153597.1:p.Thr122Arg
NM_001300.5:c.365C>G	NP_001291.3:p.Thr122Arg
NR_027653.1:n.632C>G
NM_001300.6:c.365C>G MANE Select	NP_001291.3:p.Thr122Arg
NM_001160124.2:c.365C>G	NP_001153596.1:p.Thr122Arg
NR_027653.2:n.560C>G
NM_001160125.2:c.365C>G	NP_001153597.1:p.Thr122Arg