Canonical Allele Identifier: CA9234154
Gene: KLF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 889191
ClinVar RCV Id: RCV001122969
dbSNP Id: rs372359976
ExAC: 19:12997997 C / T
gnomAD v2: 19-12997997-C-T
gnomAD v3: 19-12887183-C-T
gnomAD v4: 19-12887183-C-T
MyVariant Identifiers: chr19:g.12997997C>T (hg19) chr19:g.12887183C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12887183C>T , CM000681.2:g.12887183C>T GRCh38
NC_000019.9:g.12997997C>T , CM000681.1:g.12997997C>T GRCh37
NC_000019.8:g.12858997C>T NCBI36
NG_009292.1:g.1024C>T
NG_013087.1:g.5021G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264834.6:c.-43G>A MANE Select ENSP00000264834.3:n.-43G>A
NM_006563.3:c.-43G>A NP_006554.1:n.-43G>A
NM_006563.4:c.-43G>A NP_006554.1:n.-43G>A
NM_006563.5:c.-43G>A MANE Select NP_006554.1:n.-43G>A
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