Canonical Allele Identifier: CA9234035
Gene: KLF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328314
ClinVar RCV Id: RCV000378844 RCV003565410
dbSNP Id: rs530729436
ExAC: 19:12996415 G / C
gnomAD v2: 19-12996415-G-C
gnomAD v3: 19-12885601-G-C
gnomAD v4: 19-12885601-G-C
MyVariant Identifiers: chr19:g.12996415G>C (hg19) chr19:g.12885601G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12885601G>C , CM000681.2:g.12885601G>C GRCh38
NC_000019.9:g.12996415G>C , CM000681.1:g.12996415G>C GRCh37
NC_000019.8:g.12857415G>C NCBI36
NG_013087.1:g.6603C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264834.6:c.629C>G MANE Select ENSP00000264834.3:p.Pro210Arg
ENST00000264834.4:c.629C>G ENSP00000264834.3:p.Pro210Arg
NM_006563.3:c.629C>G NP_006554.1:p.Pro210Arg
XM_011527642.1:c.515C>G XP_011525944.1:p.Pro172Arg
NM_006563.4:c.629C>G NP_006554.1:p.Pro210Arg
XM_011527642.2:c.515C>G XP_011525944.1:p.Pro172Arg
NM_006563.5:c.629C>G MANE Select NP_006554.1:p.Pro210Arg
Search 100 bp 5'
Search 100 bp 3'