Canonical Allele Identifier: CA305499679

Gene: KLF1

Linked Data

• dbSNP Id: rs564266953
• gnomAD v2: 19-12997774-A-G
• gnomAD v3: 19-12886960-A-G
• gnomAD v4: 19-12886960-A-G
• MyVariant Identifiers: chr19:g.12997774A>G (hg19) ; chr19:g.12886960A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12886960A>G , CM000681.2:g.12886960A>G	GRCh38
NC_000019.9:g.12997774A>G , CM000681.1:g.12997774A>G	GRCh37
NC_000019.8:g.12858774A>G	NCBI36
NG_009292.1:g.801A>G
NG_013087.1:g.5244T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264834.6:c.87+94T>C MANE Select	ENSP00000264834.3:n.87+94T>C
ENST00000264834.4:c.87+94T>C	ENSP00000264834.3:n.87+94T>C
NM_006563.3:c.87+94T>C	NP_006554.1:n.87+94T>C
XM_011527642.1:c.-117+94T>C	XP_011525944.1:n.-117+94T>C
NM_006563.4:c.87+94T>C	NP_006554.1:n.87+94T>C
XM_011527642.2:c.-117+94T>C	XP_011525944.1:n.-117+94T>C
NM_006563.5:c.87+94T>C MANE Select	NP_006554.1:n.87+94T>C