Canonical Allele Identifier: CA9234043

Gene: KLF1

Linked Data

• ClinVar Variation Id: 328316
• ClinVar RCV Id: RCV000320797 ; RCV001613058
• dbSNP Id: rs2072596
• ExAC: 19:12996500 A / G
• gnomAD v2: 19-12996500-A-G
• gnomAD v3: 19-12885686-A-G
• gnomAD v4: 19-12885686-A-G
• MyVariant Identifiers: chr19:g.12996500A>G (hg19) ; chr19:g.12885686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12885686A>G , CM000681.2:g.12885686A>G	GRCh38
NC_000019.9:g.12996500A>G , CM000681.1:g.12996500A>G	GRCh37
NC_000019.8:g.12857500A>G	NCBI36
NG_013087.1:g.6518T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264834.6:c.544T>C MANE Select	ENSP00000264834.3:p.Phe182Leu
ENST00000264834.4:c.544T>C	ENSP00000264834.3:p.Phe182Leu
NM_006563.3:c.544T>C	NP_006554.1:p.Phe182Leu
XM_011527642.1:c.430T>C	XP_011525944.1:p.Phe144Leu
NM_006563.4:c.544T>C	NP_006554.1:p.Phe182Leu
XM_011527642.2:c.430T>C	XP_011525944.1:p.Phe144Leu
NM_006563.5:c.544T>C MANE Select	NP_006554.1:p.Phe182Leu