Canonical Allele Identifier: CA368978125

Gene: CFTR

Linked Data

• gnomAD v4: 7-117652869-A-T
• MyVariant Identifiers: chr7:g.117292923A>T (hg19) ; chr7:g.117652869A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652869A>T , CM000669.2:g.117652869A>T	GRCh38
NC_000007.13:g.117292923A>T , CM000669.1:g.117292923A>T	GRCh37
NC_000007.12:g.117080159A>T	NCBI36
NG_016465.4:g.192086A>T , LRG_663:g.192086A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*110A>T	ENSP00000497673.2:n.*110A>T
ENST00000647978.2:c.*3615A>T	ENSP00000497658.1:n.*3615A>T
ENST00000649781.2:c.3718A>T	ENSP00000497203.1:p.Arg1240Ter
ENST00000685018.2:c.*114A>T	ENSP00000510194.2:n.*114A>T
ENST00000687278.2:c.*554A>T	ENSP00000509593.2:n.*554A>T
ENST00000699585.1:c.*110A>T	ENSP00000514456.1:n.*110A>T
ENST00000699598.1:c.3901A>T	ENSP00000514467.1:p.Arg1301Ter
ENST00000699599.1:c.*114A>T	ENSP00000514468.1:n.*114A>T
ENST00000699600.1:c.*562A>T	ENSP00000514469.1:n.*562A>T
ENST00000699601.1:c.*2276A>T	ENSP00000514470.1:n.*2276A>T
ENST00000699602.1:c.3895A>T	ENSP00000514471.1:p.Arg1299Ter
ENST00000699604.1:c.*3725A>T	ENSP00000514472.1:n.*3725A>T
ENST00000699605.1:c.3475A>T	ENSP00000514473.1:p.Arg1159Ter
ENST00000699606.1:n.2069A>T
ENST00000685018.1:c.765A>T	ENSP00000510194.1:n.765A>T
ENST00000687278.1:c.1688A>T	ENSP00000509593.1:n.1688A>T
ENST00000689011.1:c.483A>T
ENST00000003084.11:c.3901A>T MANE Select	ENSP00000003084.6:p.Arg1301Ter
ENST00000647720.1:c.1351A>T
ENST00000649781.1:c.3718A>T	ENSP00000497203.1:p.Arg1240Ter
ENST00000003084.10:c.3901A>T	ENSP00000003084.6:p.Arg1301Ter
ENST00000426809.5:c.3811A>T	ENSP00000389119.1:p.Arg1271Ter
ENST00000600166.1:c.27A>T
NM_000492.3:c.3901A>T , LRG_663t1:c.3901A>T	NP_000483.3:p.Arg1301Ter
XM_011515751.1:c.3991A>T	XP_011514053.1:p.Arg1331Ter
XM_011515752.1:c.3991A>T	XP_011514054.1:p.Arg1331Ter
XM_011515753.1:c.3658A>T	XP_011514055.1:p.Arg1220Ter
XM_011515754.1:c.3658A>T	XP_011514056.1:p.Arg1220Ter
NM_000492.4:c.3901A>T MANE Select	NP_000483.3:p.Arg1301Ter