Canonical Allele Identifier: CA631851149
Gene: KLF1 HGNC NCBI

Linked Data

dbSNP Id: rs1301461655
gnomAD v2: 19-12997985-C-T
gnomAD v4: 19-12887171-C-T
MyVariant Identifiers: chr19:g.12997985C>T (hg19) chr19:g.12887171C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12887171C>T , CM000681.2:g.12887171C>T GRCh38
NC_000019.9:g.12997985C>T , CM000681.1:g.12997985C>T GRCh37
NC_000019.8:g.12858985C>T NCBI36
NG_009292.1:g.1012C>T
NG_013087.1:g.5033G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264834.6:c.-31G>A MANE Select ENSP00000264834.3:n.-31G>A
ENST00000264834.4:c.-31G>A ENSP00000264834.3:n.-31G>A
NM_006563.3:c.-31G>A NP_006554.1:n.-31G>A
NM_006563.4:c.-31G>A NP_006554.1:n.-31G>A
NM_006563.5:c.-31G>A MANE Select NP_006554.1:n.-31G>A
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