Canonical Allele Identifier: CA10652259
Gene: KLF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328309
ClinVar RCV Id: RCV000263507
dbSNP Id: rs867980189
gnomAD v2: 19-12995436-G-A
gnomAD v3: 19-12884622-G-A
gnomAD v4: 19-12884622-G-A
MyVariant Identifiers: chr19:g.12995436G>A (hg19) chr19:g.12884622G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12884622G>A , CM000681.2:g.12884622G>A GRCh38
NC_000019.9:g.12995436G>A , CM000681.1:g.12995436G>A GRCh37
NC_000019.8:g.12856436G>A NCBI36
NG_013087.1:g.7582C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264834.6:c.*263C>T MANE Select ENSP00000264834.3:n.*263C>T
ENST00000264834.4:c.*263C>T ENSP00000264834.3:n.*263C>T
NM_006563.3:c.*263C>T NP_006554.1:n.*263C>T
XM_011527642.1:c.*263C>T XP_011525944.1:n.*263C>T
NM_006563.4:c.*263C>T NP_006554.1:n.*263C>T
XM_011527642.2:c.*263C>T XP_011525944.1:n.*263C>T
NM_006563.5:c.*263C>T MANE Select NP_006554.1:n.*263C>T
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