Canonical Allele Identifier: CA368975635

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282643C>G (hg19) ; chr7:g.117642589C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642589C>G , CM000669.2:g.117642589C>G	GRCh38
NC_000007.13:g.117282643C>G , CM000669.1:g.117282643C>G	GRCh37
NC_000007.12:g.117069879C>G	NCBI36
NG_016465.4:g.181806C>G , LRG_663:g.181806C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*78C>G	ENSP00000497673.2:n.*78C>G
ENST00000647978.2:c.*3583C>G	ENSP00000497658.1:n.*3583C>G
ENST00000649781.2:c.3686C>G	ENSP00000497203.1:p.Pro1229Arg
ENST00000685018.2:c.3869C>G	ENSP00000510194.2:p.Pro1290Arg
ENST00000687278.2:c.*522C>G	ENSP00000509593.2:n.*522C>G
ENST00000699585.1:c.*78C>G	ENSP00000514456.1:n.*78C>G
ENST00000699598.1:c.3869C>G	ENSP00000514467.1:p.Pro1290Arg
ENST00000699599.1:c.3869C>G	ENSP00000514468.1:p.Pro1290Arg
ENST00000699600.1:c.*530C>G	ENSP00000514469.1:n.*530C>G
ENST00000699601.1:c.*2244C>G	ENSP00000514470.1:n.*2244C>G
ENST00000699602.1:c.3863C>G	ENSP00000514471.1:p.Pro1288Arg
ENST00000699604.1:c.*3693C>G	ENSP00000514472.1:n.*3693C>G
ENST00000699605.1:c.3443C>G	ENSP00000514473.1:p.Pro1148Arg
ENST00000685018.1:c.617C>G	ENSP00000510194.1:p.Pro206Arg
ENST00000687278.1:c.1656C>G	ENSP00000509593.1:n.1656C>G
ENST00000689011.1:c.451C>G
ENST00000003084.11:c.3869C>G MANE Select	ENSP00000003084.6:p.Pro1290Arg
ENST00000647720.1:c.1319C>G
ENST00000649781.1:c.3686C>G	ENSP00000497203.1:p.Pro1229Arg
ENST00000003084.10:c.3869C>G	ENSP00000003084.6:p.Pro1290Arg
ENST00000426809.5:c.3779C>G	ENSP00000389119.1:p.Pro1260Arg
NM_000492.3:c.3869C>G , LRG_663t1:c.3869C>G	NP_000483.3:p.Pro1290Arg
XM_011515751.1:c.3959C>G	XP_011514053.1:p.Pro1320Arg
XM_011515752.1:c.3959C>G	XP_011514054.1:p.Pro1320Arg
XM_011515753.1:c.3626C>G	XP_011514055.1:p.Pro1209Arg
XM_011515754.1:c.3626C>G	XP_011514056.1:p.Pro1209Arg
NM_000492.4:c.3869C>G MANE Select	NP_000483.3:p.Pro1290Arg