Canonical Allele Identifier: CA375869472
Gene: KLF6 HGNC NCBI
COSMIC:
COSM245311
MyVariant.info:
GRCh38 chr10:g.3781907G>A
GRCh37 chr10:g.3824099G>A
Revel Score:
ENST00000497571 (MANE Select) 0.154
ENST00000542957 0.154
ENST00000469435 0.154
gnomAD v2:
10:3824099 G / A
gnomAD v4:
chr10-3781907-G-A
Joint Max Group AF 0.00000739 (EAS)
Exomes Max Group AF 0.00000835 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3781907G>A , CM000672.2:g.3781907G>A GRCh38
NC_000010.10:g.3824099G>A , CM000672.1:g.3824099G>A GRCh37
NC_000010.9:g.3814099G>A NCBI36
NG_012277.1:g.8375C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000497571.6:c.410C>T MANE Select ENSP00000419923.1:p.Ser137Leu
ENST00000173785.4:n.145C>T
ENST00000380946.3:n.645C>T
ENST00000469435.1:c.410C>T ENSP00000419079.1:p.Ser137Leu
ENST00000497571.5:c.410C>T ENSP00000419923.1:p.Ser137Leu
ENST00000542957.1:c.410C>T ENSP00000445301.1:p.Ser137Leu
NM_001160124.1:c.410C>T NP_001153596.1:p.Ser137Leu
NM_001160125.1:c.410C>T NP_001153597.1:p.Ser137Leu
NM_001300.5:c.410C>T NP_001291.3:p.Ser137Leu
NR_027653.1:n.677C>T
NM_001300.6:c.410C>T MANE Select NP_001291.3:p.Ser137Leu
NM_001160124.2:c.410C>T NP_001153596.1:p.Ser137Leu
NR_027653.2:n.605C>T
NM_001160125.2:c.410C>T NP_001153597.1:p.Ser137Leu
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