Canonical Allele Identifier: CA10652262
Gene: KLF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328319
ClinVar RCV Id: RCV000345252
dbSNP Id: rs886054237
gnomAD v2: 19-12996691-C-T
gnomAD v4: 19-12885877-C-T
MyVariant Identifiers: chr19:g.12996691C>T (hg19) chr19:g.12885877C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12885877C>T , CM000681.2:g.12885877C>T GRCh38
NC_000019.9:g.12996691C>T , CM000681.1:g.12996691C>T GRCh37
NC_000019.8:g.12857691C>T NCBI36
NG_013087.1:g.6327G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264834.6:c.353G>A MANE Select ENSP00000264834.3:p.Gly118Asp
ENST00000264834.4:c.353G>A ENSP00000264834.3:p.Gly118Asp
NM_006563.3:c.353G>A NP_006554.1:p.Gly118Asp
XM_011527642.1:c.239G>A XP_011525944.1:p.Gly80Asp
NM_006563.4:c.353G>A NP_006554.1:p.Gly118Asp
XM_011527642.2:c.239G>A XP_011525944.1:p.Gly80Asp
NM_006563.5:c.353G>A MANE Select NP_006554.1:p.Gly118Asp
Search 100 bp 5'
Search 100 bp 3'