Canonical Allele Identifier: CA375868951

Gene: KLF6

Linked Data

• dbSNP Id: rs368266204
• gnomAD v2: 10-3824004-G-C
• gnomAD v4: 10-3781812-G-C
• MyVariant Identifiers: chr10:g.3824004G>C (hg19) ; chr10:g.3781812G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.3781812G>C , CM000672.2:g.3781812G>C	GRCh38
NC_000010.10:g.3824004G>C , CM000672.1:g.3824004G>C	GRCh37
NC_000010.9:g.3814004G>C	NCBI36
NG_012277.1:g.8470C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000497571.6:c.505C>G MANE Select	ENSP00000419923.1:p.Leu169Val
ENST00000173785.4:n.240C>G
ENST00000380946.3:n.740C>G
ENST00000469435.1:c.505C>G	ENSP00000419079.1:p.Leu169Val
ENST00000497571.5:c.505C>G	ENSP00000419923.1:p.Leu169Val
ENST00000542957.1:c.505C>G	ENSP00000445301.1:p.Leu169Val
NM_001160124.1:c.505C>G	NP_001153596.1:p.Leu169Val
NM_001160125.1:c.505C>G	NP_001153597.1:p.Leu169Val
NM_001300.5:c.505C>G	NP_001291.3:p.Leu169Val
NR_027653.1:n.772C>G
NM_001300.6:c.505C>G MANE Select	NP_001291.3:p.Leu169Val
NM_001160124.2:c.505C>G	NP_001153596.1:p.Leu169Val
NR_027653.2:n.700C>G
NM_001160125.2:c.505C>G	NP_001153597.1:p.Leu169Val