Canonical Allele Identifier: CA201345378
Gene: KLF6 HGNC NCBI

Linked Data

dbSNP Id: rs972634245
gnomAD v3: 10-3781779-A-G
gnomAD v4: 10-3781779-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.3781779A>G , CM000672.2:g.3781779A>G GRCh38
NC_000010.10:g.3823971A>G , CM000672.1:g.3823971A>G GRCh37
NC_000010.9:g.3813971A>G NCBI36
NG_012277.1:g.8503T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000497571.6:c.538T>C MANE Select ENSP00000419923.1:p.Ser180Pro
ENST00000173785.4:n.257+16T>C
ENST00000469435.1:c.538T>C ENSP00000419079.1:p.Ser180Pro
ENST00000497571.5:c.538T>C ENSP00000419923.1:p.Ser180Pro
ENST00000542957.1:c.538T>C ENSP00000445301.1:p.Ser180Pro
NM_001160124.1:c.538T>C NP_001153596.1:p.Ser180Pro
NM_001160125.1:c.538T>C NP_001153597.1:p.Ser180Pro
NM_001300.5:c.538T>C NP_001291.3:p.Ser180Pro
NR_027653.1:n.789+16T>C
NM_001300.6:c.538T>C MANE Select NP_001291.3:p.Ser180Pro
NM_001160124.2:c.538T>C NP_001153596.1:p.Ser180Pro
NR_027653.2:n.717+16T>C
NM_001160125.2:c.538T>C NP_001153597.1:p.Ser180Pro