Canonical Allele Identifier: CA174408

Gene: KCNF1

Linked Data

• ClinVar Variation Id: 161591
• ClinVar RCV Id: RCV000149127
• dbSNP Id: rs193920977
• COSMIC: COSM1178780
• MyVariant Identifiers: chr2:g.11052800C>T (hg19) ; chr2:g.10912674C>T (hg38)
• PubMed: PMID:23265383

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.10912674C>T , CM000664.2:g.10912674C>T	GRCh38
NC_000002.11:g.11052800C>T , CM000664.1:g.11052800C>T	GRCh37
NC_000002.10:g.10970251C>T	NCBI36
NG_050750.1:g.5738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295082.3:c.248C>T MANE Select	ENSP00000295082.1:p.Pro83Leu
ENST00000295082.2:c.248C>T	ENSP00000295082.1:p.Pro83Leu
NM_002236.4:c.248C>T	NP_002227.2:p.Pro83Leu
NM_002236.5:c.248C>T MANE Select	NP_002227.2:p.Pro83Leu