Canonical Allele Identifier: CA404310920

Gene: KLF1

Linked Data

• dbSNP Id: rs1599602598
• COSMIC: COSM2816868
• MyVariant Identifiers: chr19:g.12997879C>A (hg19) ; chr19:g.12887065C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12887065C>A , CM000681.2:g.12887065C>A	GRCh38
NC_000019.9:g.12997879C>A , CM000681.1:g.12997879C>A	GRCh37
NC_000019.8:g.12858879C>A	NCBI36
NG_009292.1:g.906C>A
NG_013087.1:g.5139G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264834.6:c.76G>T MANE Select	ENSP00000264834.3:p.Asp26Tyr
ENST00000264834.4:c.76G>T	ENSP00000264834.3:p.Asp26Tyr
NM_006563.3:c.76G>T	NP_006554.1:p.Asp26Tyr
XM_011527642.1:c.-128G>T	XP_011525944.1:n.-128G>T
NM_006563.4:c.76G>T	NP_006554.1:p.Asp26Tyr
XM_011527642.2:c.-128G>T	XP_011525944.1:n.-128G>T
NM_006563.5:c.76G>T MANE Select	NP_006554.1:p.Asp26Tyr