Canonical Allele Identifier: CA368989190

Gene: CFTR

Linked Data

• ClinVar Variation Id: 572478
• ClinVar RCV Id: RCV000693866
• dbSNP Id: rs1043006335
• MyVariant Identifiers: chr7:g.117246793T>C (hg19) ; chr7:g.117606739T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606739T>C , CM000669.2:g.117606739T>C	GRCh38
NC_000007.13:g.117246793T>C , CM000669.1:g.117246793T>C	GRCh37
NC_000007.12:g.117034029T>C	NCBI36
NG_016465.4:g.145956T>C , LRG_663:g.145956T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2974T>C	ENSP00000497673.2:p.Phe992Leu
ENST00000647978.2:c.*2688T>C	ENSP00000497658.1:n.*2688T>C
ENST00000649781.2:c.2791T>C	ENSP00000497203.1:p.Phe931Leu
ENST00000685018.2:c.2974T>C	ENSP00000510194.2:p.Phe992Leu
ENST00000687278.2:c.2974T>C	ENSP00000509593.2:p.Phe992Leu
ENST00000699585.1:c.2974T>C	ENSP00000514456.1:p.Phe992Leu
ENST00000699598.1:c.2974T>C	ENSP00000514467.1:p.Phe992Leu
ENST00000699599.1:c.2974T>C	ENSP00000514468.1:p.Phe992Leu
ENST00000699600.1:c.2974T>C	ENSP00000514469.1:p.Phe992Leu
ENST00000699601.1:c.*1274T>C	ENSP00000514470.1:n.*1274T>C
ENST00000699602.1:c.2974T>C	ENSP00000514471.1:p.Phe992Leu
ENST00000699604.1:c.*2798T>C	ENSP00000514472.1:n.*2798T>C
ENST00000699605.1:c.2548T>C	ENSP00000514473.1:p.Phe850Leu
ENST00000687278.1:c.565T>C	ENSP00000509593.1:p.Phe189Leu
ENST00000003084.11:c.2974T>C MANE Select	ENSP00000003084.6:p.Phe992Leu
ENST00000647720.1:c.624T>C
ENST00000648260.1:c.1756T>C	ENSP00000497957.1:p.Phe586Leu
ENST00000649406.1:c.2791T>C	ENSP00000497965.1:p.Phe931Leu
ENST00000649781.1:c.2791T>C	ENSP00000497203.1:p.Phe931Leu
ENST00000003084.10:c.2974T>C	ENSP00000003084.6:p.Phe992Leu
ENST00000426809.5:c.2884T>C	ENSP00000389119.1:p.Phe962Leu
NM_000492.3:c.2974T>C , LRG_663t1:c.2974T>C	NP_000483.3:p.Phe992Leu
XM_011515751.1:c.3064T>C	XP_011514053.1:p.Phe1022Leu
XM_011515752.1:c.3064T>C	XP_011514054.1:p.Phe1022Leu
XM_011515753.1:c.2731T>C	XP_011514055.1:p.Phe911Leu
XM_011515754.1:c.2731T>C	XP_011514056.1:p.Phe911Leu
NM_000492.4:c.2974T>C MANE Select	NP_000483.3:p.Phe992Leu