Canonical Allele Identifier: CA2684621669

Gene: CFTR

Linked Data

• gnomAD v4: 7-117668033-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668033G>T , CM000669.2:g.117668033G>T	GRCh38
NC_000007.13:g.117308087G>T , CM000669.1:g.117308087G>T	GRCh37
NC_000007.12:g.117095323G>T	NCBI36
NG_016465.4:g.207250G>T , LRG_663:g.207250G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*1577G>T	ENSP00000497673.2:n.*1577G>T
ENST00000647978.2:c.*5082G>T	ENSP00000497658.1:n.*5082G>T
ENST00000649781.2:c.*925G>T	ENSP00000497203.1:n.*925G>T
ENST00000685018.2:c.*1581G>T	ENSP00000510194.2:n.*1581G>T
ENST00000687278.2:c.*1051+276G>T	ENSP00000509593.2:n.*1051+276G>T
ENST00000699585.1:c.*1837G>T	ENSP00000514456.1:n.*1837G>T
ENST00000699598.1:c.*454+276G>T	ENSP00000514467.1:n.*454+276G>T
ENST00000699599.1:c.*961+276G>T	ENSP00000514468.1:n.*961+276G>T
ENST00000699600.1:c.*1059+276G>T	ENSP00000514469.1:n.*1059+276G>T
ENST00000699601.1:c.*3743G>T	ENSP00000514470.1:n.*3743G>T
ENST00000699602.1:c.*925G>T	ENSP00000514471.1:n.*925G>T
ENST00000699604.1:c.*5192G>T	ENSP00000514472.1:n.*5192G>T
ENST00000699605.1:c.*925G>T	ENSP00000514473.1:n.*925G>T
ENST00000699606.1:n.4879G>T
ENST00000685018.1:c.2232G>T	ENSP00000510194.1:n.2232G>T
ENST00000687278.1:c.2185+276G>T	ENSP00000509593.1:n.2185+276G>T
ENST00000689011.1:c.2210G>T
ENST00000003084.11:c.*925G>T MANE Select	ENSP00000003084.6:n.*925G>T
ENST00000647720.1:c.2818G>T
ENST00000003084.10:c.*925G>T	ENSP00000003084.6:n.*925G>T
ENST00000600166.1:c.368+2469G>T
NM_000492.3:c.*925G>T , LRG_663t1:c.*925G>T	NP_000483.3:n.*925G>T
XM_011515751.1:c.*925G>T	XP_011514053.1:n.*925G>T
XM_011515753.1:c.*925G>T	XP_011514055.1:n.*925G>T
XM_011515754.1:c.*925G>T	XP_011514056.1:n.*925G>T
NM_000492.4:c.*925G>T MANE Select	NP_000483.3:n.*925G>T