Canonical Allele Identifier: CA9233959

Gene: KLF1

Linked Data

• ClinVar Variation Id: 253309
• ClinVar RCV Id: RCV000240027 ; RCV003493553 ; RCV003727640
• dbSNP Id: rs769526751
• ExAC: 19:12995834 C / G
• gnomAD v2: 19-12995834-C-G
• gnomAD v4: 19-12885020-C-G
• MyVariant Identifiers: chr19:g.12995834C>G (hg19) ; chr19:g.12885020C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12885020C>G , CM000681.2:g.12885020C>G	GRCh38
NC_000019.9:g.12995834C>G , CM000681.1:g.12995834C>G	GRCh37
NC_000019.8:g.12856834C>G	NCBI36
NG_013087.1:g.7184G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264834.6:c.954G>C MANE Select	ENSP00000264834.3:p.Trp318Cys
ENST00000264834.4:c.954G>C	ENSP00000264834.3:p.Trp318Cys
NM_006563.3:c.954G>C	NP_006554.1:p.Trp318Cys
XM_011527642.1:c.840G>C	XP_011525944.1:p.Trp280Cys
NM_006563.4:c.954G>C	NP_006554.1:p.Trp318Cys
XM_011527642.2:c.840G>C	XP_011525944.1:p.Trp280Cys
NM_006563.5:c.954G>C MANE Select	NP_006554.1:p.Trp318Cys