Canonical Allele Identifier: CA2739933839

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627776A>T , CM000669.2:g.117627776A>T	GRCh38
NC_000007.13:g.117267830A>T , CM000669.1:g.117267830A>T	GRCh37
NC_000007.12:g.117055066A>T	NCBI36
NG_016465.4:g.166993A>T , LRG_663:g.166993A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+206A>T	ENSP00000497673.2:n.3517+206A>T
ENST00000647978.2:c.*3431+6A>T	ENSP00000497658.1:n.*3431+6A>T
ENST00000649781.2:c.3534+6A>T	ENSP00000497203.1:n.3534+6A>T
ENST00000685018.2:c.3717+6A>T	ENSP00000510194.2:n.3717+6A>T
ENST00000687278.2:c.*370+6A>T	ENSP00000509593.2:n.*370+6A>T
ENST00000699585.1:c.3517+206A>T	ENSP00000514456.1:n.3517+206A>T
ENST00000699598.1:c.3717+6A>T	ENSP00000514467.1:n.3717+6A>T
ENST00000699599.1:c.3717+6A>T	ENSP00000514468.1:n.3717+6A>T
ENST00000699600.1:c.*378+6A>T	ENSP00000514469.1:n.*378+6A>T
ENST00000699601.1:c.*2092+6A>T	ENSP00000514470.1:n.*2092+6A>T
ENST00000699602.1:c.3711+6A>T	ENSP00000514471.1:n.3711+6A>T
ENST00000699604.1:c.*3541+6A>T	ENSP00000514472.1:n.*3541+6A>T
ENST00000699605.1:c.3291+6A>T	ENSP00000514473.1:n.3291+6A>T
ENST00000685018.1:c.465+6A>T	ENSP00000510194.1:n.465+6A>T
ENST00000687278.1:c.1504+6A>T	ENSP00000509593.1:n.1504+6A>T
ENST00000689011.1:c.299+6A>T
ENST00000003084.11:c.3717+6A>T MANE Select	ENSP00000003084.6:n.3717+6A>T
ENST00000647720.1:c.1167+206A>T
ENST00000648260.1:c.2505A>T	ENSP00000497957.1:p.Arg835Ser
ENST00000649406.1:c.3540A>T	ENSP00000497965.1:p.Arg1180Ser
ENST00000649781.1:c.3534+6A>T	ENSP00000497203.1:n.3534+6A>T
ENST00000003084.10:c.3717+6A>T	ENSP00000003084.6:n.3717+6A>T
ENST00000426809.5:c.3627+6A>T	ENSP00000389119.1:n.3627+6A>T
ENST00000468795.1:c.548A>T
NM_000492.3:c.3717+6A>T , LRG_663t1:c.3717+6A>T	NP_000483.3:n.3717+6A>T
XM_011515751.1:c.3807+6A>T	XP_011514053.1:n.3807+6A>T
XM_011515752.1:c.3807+6A>T	XP_011514054.1:n.3807+6A>T
XM_011515753.1:c.3474+6A>T	XP_011514055.1:n.3474+6A>T
XM_011515754.1:c.3474+6A>T	XP_011514056.1:n.3474+6A>T
NM_000492.4:c.3717+6A>T MANE Select	NP_000483.3:n.3717+6A>T