Canonical Allele Identifier: CA375868489
Gene: KLF6 HGNC NCBI

Linked Data

gnomAD v4: 10-3781729-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3781729C>A , CM000672.2:g.3781729C>A GRCh38
NC_000010.10:g.3823921C>A , CM000672.1:g.3823921C>A GRCh37
NC_000010.9:g.3813921C>A NCBI36
NG_012277.1:g.8553G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000497571.6:c.588G>T MANE Select ENSP00000419923.1:p.Arg196Ser
ENST00000173785.4:n.257+66G>T
ENST00000469435.1:c.588G>T ENSP00000419079.1:p.Arg196Ser
ENST00000497571.5:c.588G>T ENSP00000419923.1:p.Arg196Ser
ENST00000542957.1:c.588G>T ENSP00000445301.1:p.Arg196Ser
NM_001160124.1:c.550+38G>T NP_001153596.1:n.550+38G>T
NM_001160125.1:c.588G>T NP_001153597.1:p.Arg196Ser
NM_001300.5:c.588G>T NP_001291.3:p.Arg196Ser
NR_027653.1:n.789+66G>T
NM_001300.6:c.588G>T MANE Select NP_001291.3:p.Arg196Ser
NM_001160124.2:c.550+38G>T NP_001153596.1:n.550+38G>T
NR_027653.2:n.717+66G>T
NM_001160125.2:c.588G>T NP_001153597.1:p.Arg196Ser