Canonical Allele Identifier: CA327535

Gene: CFTR

Identifiers and link-outs to other resources

• ClinVar Variation Id: 53976
• ClinVar RCV Id: RCV000576939
• dbSNP Id: rs397508736
• MyVariant Identifiers: chr7:g.117174334T>C (hg19) ; chr7:g.117534280T>C (hg38)
• PubMed: PMID:20059485

User contributed link-outs

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117534280T>C , CM000669.2:g.117534280T>C	GRCh38
NC_000007.13:g.117174334T>C , CM000669.1:g.117174334T>C	GRCh37
NC_000007.12:g.116961570T>C	NCBI36
NG_016465.4:g.73497T>C , LRG_663:g.73497T>C

Transcript Alleles

HGVS	Amino-acid change
NM_000492.3:c.494T>C , LRG_663t1:c.494T>C	NP_000483.3:p.Leu165Ser
XM_011515751.1:c.584T>C	XP_011514053.1:p.Leu195Ser
XM_011515752.1:c.584T>C	XP_011514054.1:p.Leu195Ser
XM_011515753.1:c.251T>C	XP_011514055.1:p.Leu84Ser
XM_011515754.1:c.251T>C	XP_011514056.1:p.Leu84Ser
ENST00000003084.10:c.494T>C	ENSP00000003084.6:p.Leu165Ser
ENST00000426809.5:n.490-968T>C	ENSP00000389119.1:p.=