Canonical Allele Identifier: CA375869532
Gene: KLF6 HGNC NCBI

Linked Data

dbSNP Id: rs1379698490
gnomAD v2: 10-3824123-G-C
gnomAD v3: 10-3781931-G-C
gnomAD v4: 10-3781931-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3781931G>C , CM000672.2:g.3781931G>C GRCh38
NC_000010.10:g.3824123G>C , CM000672.1:g.3824123G>C GRCh37
NC_000010.9:g.3814123G>C NCBI36
NG_012277.1:g.8351C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000497571.6:c.386C>G MANE Select ENSP00000419923.1:p.Pro129Arg
ENST00000173785.4:n.121C>G
ENST00000380946.3:n.621C>G
ENST00000469435.1:c.386C>G ENSP00000419079.1:p.Pro129Arg
ENST00000497571.5:c.386C>G ENSP00000419923.1:p.Pro129Arg
ENST00000542957.1:c.386C>G ENSP00000445301.1:p.Pro129Arg
NM_001160124.1:c.386C>G NP_001153596.1:p.Pro129Arg
NM_001160125.1:c.386C>G NP_001153597.1:p.Pro129Arg
NM_001300.5:c.386C>G NP_001291.3:p.Pro129Arg
NR_027653.1:n.653C>G
NM_001300.6:c.386C>G MANE Select NP_001291.3:p.Pro129Arg
NM_001160124.2:c.386C>G NP_001153596.1:p.Pro129Arg
NR_027653.2:n.581C>G
NM_001160125.2:c.386C>G NP_001153597.1:p.Pro129Arg