Canonical Allele Identifier: CA9234065
Gene: KLF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 260001
ClinVar RCV Id: RCV000251710 RCV000350669 RCV001651195
dbSNP Id: rs2072597
ExAC: 19:12996740 A / G
gnomAD v2: 19-12996740-A-G
gnomAD v3: 19-12885926-A-G
gnomAD v4: 19-12885926-A-G
MyVariant Identifiers: chr19:g.12996740A>G (hg19) chr19:g.12885926A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12885926A>G , CM000681.2:g.12885926A>G GRCh38
NC_000019.9:g.12996740A>G , CM000681.1:g.12996740A>G GRCh37
NC_000019.8:g.12857740A>G NCBI36
NG_013087.1:g.6278T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264834.6:c.304T>C MANE Select ENSP00000264834.3:p.Ser102Pro
ENST00000264834.4:c.304T>C ENSP00000264834.3:p.Ser102Pro
NM_006563.3:c.304T>C NP_006554.1:p.Ser102Pro
XM_011527642.1:c.190T>C XP_011525944.1:p.Ser64Pro
NM_006563.4:c.304T>C NP_006554.1:p.Ser102Pro
XM_011527642.2:c.190T>C XP_011525944.1:p.Ser64Pro
NM_006563.5:c.304T>C MANE Select NP_006554.1:p.Ser102Pro
Search 100 bp 5'
Search 100 bp 3'