Canonical Allele Identifier: CA9234075
Gene: KLF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 328323
ClinVar RCV Id: RCV000311019 RCV002292526 RCV002502265
dbSNP Id: rs752204035
ExAC: 19:12996785 G / C
gnomAD v2: 19-12996785-G-C
gnomAD v3: 19-12885971-G-C
gnomAD v4: 19-12885971-G-C
MyVariant Identifiers: chr19:g.12996785G>C (hg19) chr19:g.12885971G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12885971G>C , CM000681.2:g.12885971G>C GRCh38
NC_000019.9:g.12996785G>C , CM000681.1:g.12996785G>C GRCh37
NC_000019.8:g.12857785G>C NCBI36
NG_013087.1:g.6233C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264834.6:c.259C>G MANE Select ENSP00000264834.3:p.Pro87Ala
ENST00000264834.4:c.259C>G ENSP00000264834.3:p.Pro87Ala
NM_006563.3:c.259C>G NP_006554.1:p.Pro87Ala
XM_011527642.1:c.145C>G XP_011525944.1:p.Pro49Ala
NM_006563.4:c.259C>G NP_006554.1:p.Pro87Ala
XM_011527642.2:c.145C>G XP_011525944.1:p.Pro49Ala
NM_006563.5:c.259C>G MANE Select NP_006554.1:p.Pro87Ala
Search 100 bp 5'
Search 100 bp 3'