Canonical Allele Identifier: CA9234139
Gene: KLF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 784830
ClinVar RCV Id: RCV000966611
dbSNP Id: rs201164683
ExAC: 19:12997936 C / T
gnomAD v2: 19-12997936-C-T
gnomAD v3: 19-12887122-C-T
gnomAD v4: 19-12887122-C-T
COSMIC: COSM4074512
MyVariant Identifiers: chr19:g.12997936C>T (hg19) chr19:g.12887122C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12887122C>T , CM000681.2:g.12887122C>T GRCh38
NC_000019.9:g.12997936C>T , CM000681.1:g.12997936C>T GRCh37
NC_000019.8:g.12858936C>T NCBI36
NG_009292.1:g.963C>T
NG_013087.1:g.5082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264834.6:c.19G>A MANE Select ENSP00000264834.3:p.Ala7Thr
ENST00000264834.4:c.19G>A ENSP00000264834.3:p.Ala7Thr
NM_006563.3:c.19G>A NP_006554.1:p.Ala7Thr
XM_011527642.1:c.-185G>A XP_011525944.1:n.-185G>A
NM_006563.4:c.19G>A NP_006554.1:p.Ala7Thr
XM_011527642.2:c.-185G>A XP_011525944.1:n.-185G>A
NM_006563.5:c.19G>A MANE Select NP_006554.1:p.Ala7Thr
Search 100 bp 5'
Search 100 bp 3'