Canonical Allele Identifier: CA9234127
Gene: KLF1 HGNC NCBI

Linked Data

dbSNP Id: rs375248069
ExAC: 19:12997873 G / A
gnomAD v2: 19-12997873-G-A
gnomAD v3: 19-12887059-G-A
gnomAD v4: 19-12887059-G-A
MyVariant Identifiers: chr19:g.12997873G>A (hg19) chr19:g.12887059G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12887059G>A , CM000681.2:g.12887059G>A GRCh38
NC_000019.9:g.12997873G>A , CM000681.1:g.12997873G>A GRCh37
NC_000019.8:g.12858873G>A NCBI36
NG_009292.1:g.900G>A
NG_013087.1:g.5145C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264834.6:c.82C>T MANE Select ENSP00000264834.3:p.Leu28Phe
ENST00000264834.4:c.82C>T ENSP00000264834.3:p.Leu28Phe
NM_006563.3:c.82C>T NP_006554.1:p.Leu28Phe
XM_011527642.1:c.-122C>T XP_011525944.1:n.-122C>T
NM_006563.4:c.82C>T NP_006554.1:p.Leu28Phe
XM_011527642.2:c.-122C>T XP_011525944.1:n.-122C>T
NM_006563.5:c.82C>T MANE Select NP_006554.1:p.Leu28Phe
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