Canonical Allele Identifier: CA5388765
Gene: KLF6 HGNC NCBI

Linked Data

dbSNP Id: rs758505830
gnomAD v2: 10-3823983-G-A
gnomAD v3: 10-3781791-G-A
gnomAD v4: 10-3781791-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3781791G>A , CM000672.2:g.3781791G>A GRCh38
NC_000010.10:g.3823983G>A , CM000672.1:g.3823983G>A GRCh37
NC_000010.9:g.3813983G>A NCBI36
NG_012277.1:g.8491C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000497571.6:c.526C>T MANE Select ENSP00000419923.1:p.Arg176Cys
ENST00000173785.4:n.257+4C>T
ENST00000469435.1:c.526C>T ENSP00000419079.1:p.Arg176Cys
ENST00000497571.5:c.526C>T ENSP00000419923.1:p.Arg176Cys
ENST00000542957.1:c.526C>T ENSP00000445301.1:p.Arg176Cys
NM_001160124.1:c.526C>T NP_001153596.1:p.Arg176Cys
NM_001160125.1:c.526C>T NP_001153597.1:p.Arg176Cys
NM_001300.5:c.526C>T NP_001291.3:p.Arg176Cys
NR_027653.1:n.789+4C>T
NM_001300.6:c.526C>T MANE Select NP_001291.3:p.Arg176Cys
NM_001160124.2:c.526C>T NP_001153596.1:p.Arg176Cys
NR_027653.2:n.717+4C>T
NM_001160125.2:c.526C>T NP_001153597.1:p.Arg176Cys