Canonical Allele Identifier: CA201345430
Gene: KLF6 HGNC NCBI

Linked Data

dbSNP Id: rs747244583
gnomAD v2: 10-3823996-C-A
gnomAD v4: 10-3781804-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3781804C>A , CM000672.2:g.3781804C>A GRCh38
NC_000010.10:g.3823996C>A , CM000672.1:g.3823996C>A GRCh37
NC_000010.9:g.3813996C>A NCBI36
NG_012277.1:g.8478G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000497571.6:c.513G>T MANE Select ENSP00000419923.1:p.Ser171=
ENST00000173785.4:n.248G>T
ENST00000469435.1:c.513G>T ENSP00000419079.1:p.Ser171=
ENST00000497571.5:c.513G>T ENSP00000419923.1:p.Ser171=
ENST00000542957.1:c.513G>T ENSP00000445301.1:p.Ser171=
NM_001160124.1:c.513G>T NP_001153596.1:p.Ser171=
NM_001160125.1:c.513G>T NP_001153597.1:p.Ser171=
NM_001300.5:c.513G>T NP_001291.3:p.Ser171=
NR_027653.1:n.780G>T
NM_001300.6:c.513G>T MANE Select NP_001291.3:p.Ser171=
NM_001160124.2:c.513G>T NP_001153596.1:p.Ser171=
NR_027653.2:n.708G>T
NM_001160125.2:c.513G>T NP_001153597.1:p.Ser171=