Canonical Allele Identifier: CA9234142

Gene: KLF1

Linked Data

• dbSNP Id: rs1555747736
• ExAC: 19:12997947 G / A
• gnomAD v2: 19-12997947-G-A
• gnomAD v3: 19-12887133-G-A
• gnomAD v4: 19-12887133-G-A
• MyVariant Identifiers: chr19:g.12997947G>A (hg19) ; chr19:g.12997947_12997957delinsATGGCCATGGC (hg19) ; chr19:g.12887133G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12887133G>A , CM000681.2:g.12887133G>A	GRCh38
NC_000019.9:g.12997947G>A , CM000681.1:g.12997947G>A	GRCh37
NC_000019.8:g.12858947G>A	NCBI36
NG_009292.1:g.974G>A
NG_013087.1:g.5071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264834.6:c.8C>T MANE Select	ENSP00000264834.3:p.Thr3Ile
ENST00000264834.4:c.8C>T	ENSP00000264834.3:p.Thr3Ile
NM_006563.3:c.8C>T	NP_006554.1:p.Thr3Ile
NM_006563.4:c.8C>T	NP_006554.1:p.Thr3Ile
NM_006563.5:c.8C>T MANE Select	NP_006554.1:p.Thr3Ile