Canonical Allele Identifier: CA9234146

Gene: KLF1

Linked Data

• dbSNP Id: rs757317733
• ExAC: 19:12997959 G / A
• gnomAD v2: 19-12997959-G-A
• gnomAD v3: 19-12887145-G-A
• gnomAD v4: 19-12887145-G-A
• MyVariant Identifiers: chr19:g.12997959G>A (hg19) ; chr19:g.12887145G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12887145G>A , CM000681.2:g.12887145G>A	GRCh38
NC_000019.9:g.12997959G>A , CM000681.1:g.12997959G>A	GRCh37
NC_000019.8:g.12858959G>A	NCBI36
NG_009292.1:g.986G>A
NG_013087.1:g.5059C>T

Transcript Alleles

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