Canonical Allele Identifier: CA9234047

Gene: KLF1

Linked Data

• ClinVar Variation Id: 328318
• ClinVar RCV Id: RCV000290356 ; RCV002521193 ; RCV003957677 ; RCV002523053
• dbSNP Id: rs772655521
• ExAC: 19:12996566 C / T
• gnomAD v2: 19-12996566-C-T
• gnomAD v3: 19-12885752-C-T
• gnomAD v4: 19-12885752-C-T
• MyVariant Identifiers: chr19:g.12996566C>T (hg19) ; chr19:g.12885752C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12885752C>T , CM000681.2:g.12885752C>T	GRCh38
NC_000019.9:g.12996566C>T , CM000681.1:g.12996566C>T	GRCh37
NC_000019.8:g.12857566C>T	NCBI36
NG_013087.1:g.6452G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264834.6:c.478G>A MANE Select	ENSP00000264834.3:p.Glu160Lys
ENST00000264834.4:c.478G>A	ENSP00000264834.3:p.Glu160Lys
NM_006563.3:c.478G>A	NP_006554.1:p.Glu160Lys
XM_011527642.1:c.364G>A	XP_011525944.1:p.Glu122Lys
NM_006563.4:c.478G>A	NP_006554.1:p.Glu160Lys
XM_011527642.2:c.364G>A	XP_011525944.1:p.Glu122Lys
NM_006563.5:c.478G>A MANE Select	NP_006554.1:p.Glu160Lys