Canonical Allele Identifier: CA326940

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53577
• ClinVar RCV Id: RCV000577619
• dbSNP Id: rs397508444
• MyVariant Identifiers: chr7:g.117243774A>G (hg19) ; chr7:g.117603720A>G (hg38)
• PubMed: PMID:20059485

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603720A>G , CM000669.2:g.117603720A>G	GRCh38
NC_000007.13:g.117243774A>G , CM000669.1:g.117243774A>G	GRCh37
NC_000007.12:g.117031010A>G	NCBI36
NG_016465.4:g.142937A>G , LRG_663:g.142937A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2846A>G	ENSP00000497673.2:p.His949Arg
ENST00000647978.2:c.*2560A>G	ENSP00000497658.1:n.*2560A>G
ENST00000649781.2:c.2663A>G	ENSP00000497203.1:p.His888Arg
ENST00000685018.2:c.2846A>G	ENSP00000510194.2:p.His949Arg
ENST00000687278.2:c.2846A>G	ENSP00000509593.2:p.His949Arg
ENST00000699585.1:c.2846A>G	ENSP00000514456.1:p.His949Arg
ENST00000699598.1:c.2846A>G	ENSP00000514467.1:p.His949Arg
ENST00000699599.1:c.2846A>G	ENSP00000514468.1:p.His949Arg
ENST00000699600.1:c.2846A>G	ENSP00000514469.1:p.His949Arg
ENST00000699601.1:c.*1146A>G	ENSP00000514470.1:n.*1146A>G
ENST00000699602.1:c.2846A>G	ENSP00000514471.1:p.His949Arg
ENST00000699604.1:c.*2670A>G	ENSP00000514472.1:n.*2670A>G
ENST00000699605.1:c.2420A>G	ENSP00000514473.1:p.His807Arg
ENST00000687278.1:c.437A>G	ENSP00000509593.1:p.His146Arg
ENST00000003084.11:c.2846A>G MANE Select	ENSP00000003084.6:p.His949Arg
ENST00000647720.1:c.496A>G
ENST00000648260.1:c.1628A>G	ENSP00000497957.1:p.His543Arg
ENST00000649406.1:c.2663A>G	ENSP00000497965.1:p.His888Arg
ENST00000649781.1:c.2663A>G	ENSP00000497203.1:p.His888Arg
ENST00000003084.10:c.2846A>G	ENSP00000003084.6:p.His949Arg
ENST00000426809.5:c.2756A>G	ENSP00000389119.1:p.His919Arg
NM_000492.3:c.2846A>G , LRG_663t1:c.2846A>G	NP_000483.3:p.His949Arg
XM_011515751.1:c.2936A>G	XP_011514053.1:p.His979Arg
XM_011515752.1:c.2936A>G	XP_011514054.1:p.His979Arg
XM_011515753.1:c.2603A>G	XP_011514055.1:p.His868Arg
XM_011515754.1:c.2603A>G	XP_011514056.1:p.His868Arg
NM_000492.4:c.2846A>G MANE Select	NP_000483.3:p.His949Arg