Canonical Allele Identifier: CA16043610

Gene: KLF7

Linked Data

• ClinVar Variation Id: 374233
• ClinVar RCV Id: RCV000415332 ; RCV001090142 ; RCV001268833 ; RCV002272225 ; RCV003362774
• dbSNP Id: rs1057518995
• MyVariant Identifiers: chr2:g.207953249C>T (hg19) ; chr2:g.207088525C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.207088525C>T , CM000664.2:g.207088525C>T	GRCh38
NC_000002.11:g.207953249C>T , CM000664.1:g.207953249C>T	GRCh37
NC_000002.10:g.207661494C>T	NCBI36
NG_052989.1:g.83722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435602.2:c.706G>A	ENSP00000413590.2:p.Asp236Asn
ENST00000458272.2:c.220G>A	ENSP00000393268.1:p.Asp74Asn
ENST00000703689.1:c.734-7261G>A	ENSP00000515426.1:n.734-7261G>A
ENST00000703733.1:n.853G>A
ENST00000703734.1:c.588G>A	ENSP00000515454.1:p.Ala196=
ENST00000703735.1:c.*108G>A	ENSP00000515455.1:n.*108G>A
ENST00000309446.11:c.790G>A MANE Select	ENSP00000309570.6:p.Asp264Asn
ENST00000309446.10:c.790G>A	ENSP00000309570.6:p.Asp264Asn
ENST00000412414.6:c.706G>A	ENSP00000403284.2:p.Asp236Asn
ENST00000421199.5:c.691G>A	ENSP00000387510.1:p.Asp231Asn
ENST00000423015.5:c.588G>A	ENSP00000398572.1:p.Ala196=
ENST00000458272.1:c.220G>A	ENSP00000393268.1:p.Asp74Asn
ENST00000467833.1:n.122G>A
NM_001270942.1:c.588G>A	NP_001257871.1:p.Ala196=
NM_001270943.1:c.691G>A	NP_001257872.1:p.Asp231Asn
NM_001270944.1:c.706G>A	NP_001257873.1:p.Asp236Asn
NM_003709.3:c.790G>A	NP_003700.1:p.Asp264Asn
NR_073108.1:n.632G>A
XM_005246926.2:c.793G>A	XP_005246983.1:p.Asp265Asn
XM_006712815.2:c.793G>A	XP_006712878.1:p.Asp265Asn
XM_011512071.1:c.793G>A	XP_011510373.1:p.Asp265Asn
XM_011512072.1:c.793G>A	XP_011510374.1:p.Asp265Asn
XM_011512073.1:c.700G>A	XP_011510375.1:p.Asp234Asn
XM_011512074.1:c.694G>A	XP_011510376.1:p.Asp232Asn
XM_011512076.1:c.734-7261G>A	XP_011510378.1:n.734-7261G>A
XM_005246926.3:c.793G>A	XP_005246983.1:p.Asp265Asn
XM_006712815.3:c.793G>A	XP_006712878.1:p.Asp265Asn
XM_011512072.2:c.793G>A	XP_011510374.1:p.Asp265Asn
XM_011512073.2:c.700G>A	XP_011510375.1:p.Asp234Asn
XM_011512074.2:c.694G>A	XP_011510376.1:p.Asp232Asn
XM_017005161.1:c.790G>A	XP_016860650.1:p.Asp264Asn
XM_017005162.1:c.709G>A	XP_016860651.1:p.Asp237Asn
XM_017005164.2:c.588G>A	XP_016860653.1:p.Ala196=
XM_024453196.1:c.694G>A	XP_024308964.1:p.Asp232Asn
NM_003709.4:c.790G>A MANE Select	NP_003700.1:p.Asp264Asn
NM_001270943.2:c.691G>A	NP_001257872.1:p.Asp231Asn
NM_001270944.2:c.706G>A	NP_001257873.1:p.Asp236Asn
NR_073108.2:n.394G>A