Canonical Allele Identifier: CA9234136
Gene: KLF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1985147
ClinVar RCV Id: RCV002780556
dbSNP Id: rs142952766
ExAC: 19:12997910 G / A
gnomAD v2: 19-12997910-G-A
gnomAD v4: 19-12887096-G-A
MyVariant Identifiers: chr19:g.12997910G>A (hg19) chr19:g.12887096G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12887096G>A , CM000681.2:g.12887096G>A GRCh38
NC_000019.9:g.12997910G>A , CM000681.1:g.12997910G>A GRCh37
NC_000019.8:g.12858910G>A NCBI36
NG_009292.1:g.937G>A
NG_013087.1:g.5108C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264834.6:c.45C>T MANE Select ENSP00000264834.3:p.Thr15=
ENST00000264834.4:c.45C>T ENSP00000264834.3:p.Thr15=
NM_006563.3:c.45C>T NP_006554.1:p.Thr15=
XM_011527642.1:c.-159C>T XP_011525944.1:n.-159C>T
NM_006563.4:c.45C>T NP_006554.1:p.Thr15=
XM_011527642.2:c.-159C>T XP_011525944.1:n.-159C>T
NM_006563.5:c.45C>T MANE Select NP_006554.1:p.Thr15=
Search 100 bp 5'
Search 100 bp 3'