Canonical Allele Identifier: CA404310884
Gene: KLF1 HGNC NCBI

Linked Data

dbSNP Id: rs1322760915
gnomAD v2: 19-12997870-T-G
gnomAD v4: 19-12887056-T-G
MyVariant Identifiers: chr19:g.12997870T>G (hg19) chr19:g.12887056T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12887056T>G , CM000681.2:g.12887056T>G GRCh38
NC_000019.9:g.12997870T>G , CM000681.1:g.12997870T>G GRCh37
NC_000019.8:g.12858870T>G NCBI36
NG_009292.1:g.897T>G
NG_013087.1:g.5148A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264834.6:c.85A>C MANE Select ENSP00000264834.3:p.Lys29Gln
ENST00000264834.4:c.85A>C ENSP00000264834.3:p.Lys29Gln
NM_006563.3:c.85A>C NP_006554.1:p.Lys29Gln
XM_011527642.1:c.-119A>C XP_011525944.1:n.-119A>C
NM_006563.4:c.85A>C NP_006554.1:p.Lys29Gln
XM_011527642.2:c.-119A>C XP_011525944.1:n.-119A>C
NM_006563.5:c.85A>C MANE Select NP_006554.1:p.Lys29Gln
Search 100 bp 5'
Search 100 bp 3'