Canonical Allele Identifier: CA9234141

Gene: KLF1

Linked Data

• dbSNP Id: rs483352842
• ExAC: 19:12997942 C / G
• gnomAD v2: 19-12997942-C-G
• gnomAD v4: 19-12887128-C-G
• MyVariant Identifiers: chr19:g.12997942C>G (hg19) ; chr19:g.12887128C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12887128C>G , CM000681.2:g.12887128C>G	GRCh38
NC_000019.9:g.12997942C>G , CM000681.1:g.12997942C>G	GRCh37
NC_000019.8:g.12858942C>G	NCBI36
NG_009292.1:g.969C>G
NG_013087.1:g.5076G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264834.6:c.13G>C MANE Select	ENSP00000264834.3:p.Glu5Gln
ENST00000264834.4:c.13G>C	ENSP00000264834.3:p.Glu5Gln
NM_006563.3:c.13G>C	NP_006554.1:p.Glu5Gln
NM_006563.4:c.13G>C	NP_006554.1:p.Glu5Gln
NM_006563.5:c.13G>C MANE Select	NP_006554.1:p.Glu5Gln