Canonical Allele Identifier: CA2582770298
Gene: KLF1 HGNC NCBI

Linked Data

gnomAD v4: 19-12887048-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12887048C>G , CM000681.2:g.12887048C>G GRCh38
NC_000019.9:g.12997862C>G , CM000681.1:g.12997862C>G GRCh37
NC_000019.8:g.12858862C>G NCBI36
NG_009292.1:g.889C>G
NG_013087.1:g.5156G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264834.6:c.87+6G>C MANE Select ENSP00000264834.3:n.87+6G>C
ENST00000264834.4:c.87+6G>C ENSP00000264834.3:n.87+6G>C
NM_006563.3:c.87+6G>C NP_006554.1:n.87+6G>C
XM_011527642.1:c.-117+6G>C XP_011525944.1:n.-117+6G>C
NM_006563.4:c.87+6G>C NP_006554.1:n.87+6G>C
XM_011527642.2:c.-117+6G>C XP_011525944.1:n.-117+6G>C
NM_006563.5:c.87+6G>C MANE Select NP_006554.1:n.87+6G>C
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