Canonical Allele Identifier: CA375868554
Gene: KLF6 HGNC NCBI

Linked Data

dbSNP Id: rs1436189659
gnomAD v2: 10-3823937-G-A
gnomAD v4: 10-3781745-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3781745G>A , CM000672.2:g.3781745G>A GRCh38
NC_000010.10:g.3823937G>A , CM000672.1:g.3823937G>A GRCh37
NC_000010.9:g.3813937G>A NCBI36
NG_012277.1:g.8537C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000497571.6:c.572C>T MANE Select ENSP00000419923.1:p.Ala191Val
ENST00000173785.4:n.257+50C>T
ENST00000469435.1:c.572C>T ENSP00000419079.1:p.Ala191Val
ENST00000497571.5:c.572C>T ENSP00000419923.1:p.Ala191Val
ENST00000542957.1:c.572C>T ENSP00000445301.1:p.Ala191Val
NM_001160124.1:c.550+22C>T NP_001153596.1:n.550+22C>T
NM_001160125.1:c.572C>T NP_001153597.1:p.Ala191Val
NM_001300.5:c.572C>T NP_001291.3:p.Ala191Val
NR_027653.1:n.789+50C>T
NM_001300.6:c.572C>T MANE Select NP_001291.3:p.Ala191Val
NM_001160124.2:c.550+22C>T NP_001153596.1:n.550+22C>T
NR_027653.2:n.717+50C>T
NM_001160125.2:c.572C>T NP_001153597.1:p.Ala191Val