Canonical Allele Identifier: CA368981799

Gene: CFTR

Linked Data

• ClinVar Variation Id: 848224
• ClinVar RCV Id: RCV001051933
• dbSNP Id: rs1793339514
• gnomAD v4: 7-117664699-A-T
• MyVariant Identifiers: chr7:g.117304753A>T (hg19) ; chr7:g.117664699A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664699A>T , CM000669.2:g.117664699A>T	GRCh38
NC_000007.13:g.117304753A>T , CM000669.1:g.117304753A>T	GRCh37
NC_000007.12:g.117091989A>T	NCBI36
NG_016465.4:g.203916A>T , LRG_663:g.203916A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*184A>T	ENSP00000497673.2:n.*184A>T
ENST00000647978.2:c.*3689A>T	ENSP00000497658.1:n.*3689A>T
ENST00000649781.2:c.3792A>T	ENSP00000497203.1:p.Arg1264Ser
ENST00000685018.2:c.*188A>T	ENSP00000510194.2:n.*188A>T
ENST00000687278.2:c.*628A>T	ENSP00000509593.2:n.*628A>T
ENST00000699585.1:c.*184A>T	ENSP00000514456.1:n.*184A>T
ENST00000699598.1:c.3975A>T	ENSP00000514467.1:p.Arg1325Ser
ENST00000699599.1:c.*188A>T	ENSP00000514468.1:n.*188A>T
ENST00000699600.1:c.*636A>T	ENSP00000514469.1:n.*636A>T
ENST00000699601.1:c.*2350A>T	ENSP00000514470.1:n.*2350A>T
ENST00000699602.1:c.3969A>T	ENSP00000514471.1:p.Arg1323Ser
ENST00000699604.1:c.*3799A>T	ENSP00000514472.1:n.*3799A>T
ENST00000699605.1:c.3549A>T	ENSP00000514473.1:p.Arg1183Ser
ENST00000699606.1:n.2143A>T
ENST00000685018.1:c.839A>T	ENSP00000510194.1:n.839A>T
ENST00000687278.1:c.1762A>T	ENSP00000509593.1:n.1762A>T
ENST00000689011.1:c.557A>T
ENST00000003084.11:c.3975A>T MANE Select	ENSP00000003084.6:p.Arg1325Ser
ENST00000647720.1:c.1425A>T
ENST00000649781.1:c.3792A>T	ENSP00000497203.1:p.Arg1264Ser
ENST00000003084.10:c.3975A>T	ENSP00000003084.6:p.Arg1325Ser
ENST00000426809.5:c.3885A>T	ENSP00000389119.1:p.Arg1295Ser
ENST00000600166.1:c.101A>T
NM_000492.3:c.3975A>T , LRG_663t1:c.3975A>T	NP_000483.3:p.Arg1325Ser
XM_011515751.1:c.4065A>T	XP_011514053.1:p.Arg1355Ser
XM_011515752.1:c.4065A>T	XP_011514054.1:p.Arg1355Ser
XM_011515753.1:c.3732A>T	XP_011514055.1:p.Arg1244Ser
XM_011515754.1:c.3732A>T	XP_011514056.1:p.Arg1244Ser
NM_000492.4:c.3975A>T MANE Select	NP_000483.3:p.Arg1325Ser