Canonical Allele Identifier: CA368991806

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611595T>C , CM000669.2:g.117611595T>C	GRCh38
NC_000007.13:g.117251649T>C , CM000669.1:g.117251649T>C	GRCh37
NC_000007.12:g.117038885T>C	NCBI36
NG_016465.4:g.150812T>C , LRG_663:g.150812T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3154T>C MANE Select	NP_000483.3:p.Phe1052Leu
ENST00000003084.11:c.3154T>C MANE Select	ENSP00000003084.6:p.Phe1052Leu
NM_000492.3:c.3154T>C , LRG_663t1:c.3154T>C	NP_000483.3:p.Phe1052Leu
ENST00000003084.10:c.3154T>C	ENSP00000003084.6:p.Phe1052Leu
ENST00000426809.5:c.3064T>C	ENSP00000389119.1:p.Phe1022Leu
ENST00000647720.1:c.804T>C
ENST00000647720.2:c.3154T>C	ENSP00000497673.2:p.Phe1052Leu
ENST00000647978.2:c.*2868T>C	ENSP00000497658.1:n.*2868T>C
ENST00000648260.1:c.1936T>C	ENSP00000497957.1:p.Phe646Leu
ENST00000649406.1:c.2971T>C	ENSP00000497965.1:p.Phe991Leu
ENST00000649781.1:c.2971T>C	ENSP00000497203.1:p.Phe991Leu
ENST00000649781.2:c.2971T>C	ENSP00000497203.1:p.Phe991Leu
ENST00000685018.2:c.3154T>C	ENSP00000510194.2:p.Phe1052Leu
ENST00000687278.1:c.745T>C	ENSP00000509593.1:p.Phe249Leu
ENST00000687278.2:c.3154T>C	ENSP00000509593.2:p.Phe1052Leu
ENST00000699585.1:c.3154T>C	ENSP00000514456.1:p.Phe1052Leu
ENST00000699598.1:c.3154T>C	ENSP00000514467.1:p.Phe1052Leu
ENST00000699599.1:c.3154T>C	ENSP00000514468.1:p.Phe1052Leu
ENST00000699600.1:c.3154T>C	ENSP00000514469.1:p.Phe1052Leu
ENST00000699601.1:c.*1454T>C	ENSP00000514470.1:n.*1454T>C
ENST00000699602.1:c.3154T>C	ENSP00000514471.1:p.Phe1052Leu
ENST00000699604.1:c.*2978T>C	ENSP00000514472.1:n.*2978T>C
ENST00000699605.1:c.2728T>C	ENSP00000514473.1:p.Phe910Leu
XM_011515751.1:c.3244T>C	XP_011514053.1:p.Phe1082Leu
XM_011515752.1:c.3244T>C	XP_011514054.1:p.Phe1082Leu
XM_011515753.1:c.2911T>C	XP_011514055.1:p.Phe971Leu
XM_011515754.1:c.2911T>C	XP_011514056.1:p.Phe971Leu