Canonical Allele Identifier: CA10642336

Gene: KLF1

Linked Data

• ClinVar Variation Id: 328303
• ClinVar RCV Id: RCV000392357
• dbSNP Id: rs538356283
• gnomAD v2: 19-12995245-G-C
• gnomAD v3: 19-12884431-G-C
• gnomAD v4: 19-12884431-G-C
• MyVariant Identifiers: chr19:g.12995245G>C (hg19) ; chr19:g.12884431G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12884431G>C , CM000681.2:g.12884431G>C	GRCh38
NC_000019.9:g.12995245G>C , CM000681.1:g.12995245G>C	GRCh37
NC_000019.8:g.12856245G>C	NCBI36
NG_013087.1:g.7773C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264834.6:c.*454C>G MANE Select	ENSP00000264834.3:n.*454C>G
ENST00000264834.4:c.*454C>G	ENSP00000264834.3:n.*454C>G
NM_006563.3:c.*454C>G	NP_006554.1:n.*454C>G
XM_011527642.1:c.*454C>G	XP_011525944.1:n.*454C>G
NM_006563.4:c.*454C>G	NP_006554.1:n.*454C>G
XM_011527642.2:c.*454C>G	XP_011525944.1:n.*454C>G
NM_006563.5:c.*454C>G MANE Select	NP_006554.1:n.*454C>G