Canonical Allele Identifier: CA201345428
Gene: KLF6 HGNC NCBI

Linked Data

dbSNP Id: rs949283678
gnomAD v2: 10-3823987-C-G
gnomAD v4: 10-3781795-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3781795C>G , CM000672.2:g.3781795C>G GRCh38
NC_000010.10:g.3823987C>G , CM000672.1:g.3823987C>G GRCh37
NC_000010.9:g.3813987C>G NCBI36
NG_012277.1:g.8487G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000497571.6:c.522G>C MANE Select ENSP00000419923.1:p.Lys174Asn
ENST00000173785.4:n.257G>C
ENST00000469435.1:c.522G>C ENSP00000419079.1:p.Lys174Asn
ENST00000497571.5:c.522G>C ENSP00000419923.1:p.Lys174Asn
ENST00000542957.1:c.522G>C ENSP00000445301.1:p.Lys174Asn
NM_001160124.1:c.522G>C NP_001153596.1:p.Lys174Asn
NM_001160125.1:c.522G>C NP_001153597.1:p.Lys174Asn
NM_001300.5:c.522G>C NP_001291.3:p.Lys174Asn
NR_027653.1:n.789G>C
NM_001300.6:c.522G>C MANE Select NP_001291.3:p.Lys174Asn
NM_001160124.2:c.522G>C NP_001153596.1:p.Lys174Asn
NR_027653.2:n.717G>C
NM_001160125.2:c.522G>C NP_001153597.1:p.Lys174Asn