Canonical Allele Identifier: CA5388797

Gene: KLF6

Linked Data

• dbSNP Id: rs141079724
• ExAC: 10:3824143 C / G
• gnomAD v2: 10-3824143-C-G
• gnomAD v4: 10-3781951-C-G
• MyVariant Identifiers: chr10:g.3824143C>G (hg19) ; chr10:g.3781951C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.3781951C>G , CM000672.2:g.3781951C>G	GRCh38
NC_000010.10:g.3824143C>G , CM000672.1:g.3824143C>G	GRCh37
NC_000010.9:g.3814143C>G	NCBI36
NG_012277.1:g.8331G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000497571.6:c.366G>C MANE Select	ENSP00000419923.1:p.Thr122=
ENST00000173785.4:n.101G>C
ENST00000380946.3:n.601G>C
ENST00000469435.1:c.366G>C	ENSP00000419079.1:p.Thr122=
ENST00000497571.5:c.366G>C	ENSP00000419923.1:p.Thr122=
ENST00000542957.1:c.366G>C	ENSP00000445301.1:p.Thr122=
NM_001160124.1:c.366G>C	NP_001153596.1:p.Thr122=
NM_001160125.1:c.366G>C	NP_001153597.1:p.Thr122=
NM_001300.5:c.366G>C	NP_001291.3:p.Thr122=
NR_027653.1:n.633G>C
NM_001300.6:c.366G>C MANE Select	NP_001291.3:p.Thr122=
NM_001160124.2:c.366G>C	NP_001153596.1:p.Thr122=
NR_027653.2:n.561G>C
NM_001160125.2:c.366G>C	NP_001153597.1:p.Thr122=