Canonical Allele Identifier: CA5388819
Gene: KLF6 HGNC NCBI

Linked Data

dbSNP Id: rs141749814
gnomAD v2: 10-3824253-G-A
gnomAD v3: 10-3782061-G-A
gnomAD v4: 10-3782061-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3782061G>A , CM000672.2:g.3782061G>A GRCh38
NC_000010.10:g.3824253G>A , CM000672.1:g.3824253G>A GRCh37
NC_000010.9:g.3814253G>A NCBI36
NG_012277.1:g.8221C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000497571.6:c.256C>T MANE Select ENSP00000419923.1:p.Pro86Ser
ENST00000380946.3:n.491C>T
ENST00000469435.1:c.256C>T ENSP00000419079.1:p.Pro86Ser
ENST00000497571.5:c.256C>T ENSP00000419923.1:p.Pro86Ser
ENST00000542957.1:c.256C>T ENSP00000445301.1:p.Pro86Ser
NM_001160124.1:c.256C>T NP_001153596.1:p.Pro86Ser
NM_001160125.1:c.256C>T NP_001153597.1:p.Pro86Ser
NM_001300.5:c.256C>T NP_001291.3:p.Pro86Ser
NR_027653.1:n.523C>T
NM_001300.6:c.256C>T MANE Select NP_001291.3:p.Pro86Ser
NM_001160124.2:c.256C>T NP_001153596.1:p.Pro86Ser
NR_027653.2:n.451C>T
NM_001160125.2:c.256C>T NP_001153597.1:p.Pro86Ser