Canonical Allele Identifier: CA5388750
Gene: KLF6 HGNC NCBI

Linked Data

dbSNP Id: rs746713487
gnomAD v2: 10-3823918-C-T
gnomAD v4: 10-3781726-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3781726C>T , CM000672.2:g.3781726C>T GRCh38
NC_000010.10:g.3823918C>T , CM000672.1:g.3823918C>T GRCh37
NC_000010.9:g.3813918C>T NCBI36
NG_012277.1:g.8556G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000497571.6:c.591G>A MANE Select ENSP00000419923.1:p.Arg197=
ENST00000173785.4:n.257+69G>A
ENST00000469435.1:c.591G>A ENSP00000419079.1:p.Arg197=
ENST00000497571.5:c.591G>A ENSP00000419923.1:p.Arg197=
ENST00000542957.1:c.591G>A ENSP00000445301.1:p.Arg197=
NM_001160124.1:c.550+41G>A NP_001153596.1:n.550+41G>A
NM_001160125.1:c.591G>A NP_001153597.1:p.Arg197=
NM_001300.5:c.591G>A NP_001291.3:p.Arg197=
NR_027653.1:n.789+69G>A
NM_001300.6:c.591G>A MANE Select NP_001291.3:p.Arg197=
NM_001160124.2:c.550+41G>A NP_001153596.1:n.550+41G>A
NR_027653.2:n.717+69G>A
NM_001160125.2:c.591G>A NP_001153597.1:p.Arg197=