Canonical Allele Identifier: CA2684620430

Gene: CFTR

Linked Data

• gnomAD v4: 7-117642335-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642335G>T , CM000669.2:g.117642335G>T	GRCh38
NC_000007.13:g.117282389G>T , CM000669.1:g.117282389G>T	GRCh37
NC_000007.12:g.117069625G>T	NCBI36
NG_016465.4:g.181552G>T , LRG_663:g.181552G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3518-103G>T	ENSP00000497673.2:n.3518-103G>T
ENST00000647978.2:c.*3432-103G>T	ENSP00000497658.1:n.*3432-103G>T
ENST00000649781.2:c.3535-103G>T	ENSP00000497203.1:n.3535-103G>T
ENST00000685018.2:c.3718-103G>T	ENSP00000510194.2:n.3718-103G>T
ENST00000687278.2:c.*371-103G>T	ENSP00000509593.2:n.*371-103G>T
ENST00000699585.1:c.3518-103G>T	ENSP00000514456.1:n.3518-103G>T
ENST00000699598.1:c.3718-103G>T	ENSP00000514467.1:n.3718-103G>T
ENST00000699599.1:c.3718-103G>T	ENSP00000514468.1:n.3718-103G>T
ENST00000699600.1:c.*379-103G>T	ENSP00000514469.1:n.*379-103G>T
ENST00000699601.1:c.*2093-103G>T	ENSP00000514470.1:n.*2093-103G>T
ENST00000699602.1:c.3712-103G>T	ENSP00000514471.1:n.3712-103G>T
ENST00000699604.1:c.*3542-103G>T	ENSP00000514472.1:n.*3542-103G>T
ENST00000699605.1:c.3292-103G>T	ENSP00000514473.1:n.3292-103G>T
ENST00000685018.1:c.466-103G>T	ENSP00000510194.1:n.466-103G>T
ENST00000687278.1:c.1505-103G>T	ENSP00000509593.1:n.1505-103G>T
ENST00000689011.1:c.300-103G>T
ENST00000003084.11:c.3718-103G>T MANE Select	ENSP00000003084.6:n.3718-103G>T
ENST00000647720.1:c.1168-103G>T
ENST00000649781.1:c.3535-103G>T	ENSP00000497203.1:n.3535-103G>T
ENST00000003084.10:c.3718-103G>T	ENSP00000003084.6:n.3718-103G>T
ENST00000426809.5:c.3628-103G>T	ENSP00000389119.1:n.3628-103G>T
NM_000492.3:c.3718-103G>T , LRG_663t1:c.3718-103G>T	NP_000483.3:n.3718-103G>T
XM_011515751.1:c.3808-103G>T	XP_011514053.1:n.3808-103G>T
XM_011515752.1:c.3808-103G>T	XP_011514054.1:n.3808-103G>T
XM_011515753.1:c.3475-103G>T	XP_011514055.1:n.3475-103G>T
XM_011515754.1:c.3475-103G>T	XP_011514056.1:n.3475-103G>T
NM_000492.4:c.3718-103G>T MANE Select	NP_000483.3:n.3718-103G>T