Canonical Allele Identifier: CA9233930
Gene: KLF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328312
ClinVar RCV Id: RCV000259919
dbSNP Id: rs149022596
ExAC: 19:12995677 A / T
gnomAD v2: 19-12995677-A-T
gnomAD v3: 19-12884863-A-T
gnomAD v4: 19-12884863-A-T
MyVariant Identifiers: chr19:g.12995677A>T (hg19) chr19:g.12884863A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12884863A>T , CM000681.2:g.12884863A>T GRCh38
NC_000019.9:g.12995677A>T , CM000681.1:g.12995677A>T GRCh37
NC_000019.8:g.12856677A>T NCBI36
NG_013087.1:g.7341T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264834.6:c.*22T>A MANE Select ENSP00000264834.3:n.*22T>A
ENST00000264834.4:c.*22T>A ENSP00000264834.3:n.*22T>A
NM_006563.3:c.*22T>A NP_006554.1:n.*22T>A
XM_011527642.1:c.*22T>A XP_011525944.1:n.*22T>A
NM_006563.4:c.*22T>A NP_006554.1:n.*22T>A
XM_011527642.2:c.*22T>A XP_011525944.1:n.*22T>A
NM_006563.5:c.*22T>A MANE Select NP_006554.1:n.*22T>A
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