Canonical Allele Identifier: CA368975633

Gene: CFTR

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*78C>A	ENSP00000497673.2:n.*78C>A
ENST00000647978.2:c.*3583C>A	ENSP00000497658.1:n.*3583C>A
ENST00000649781.2:c.3686C>A	ENSP00000497203.1:p.Pro1229Gln
ENST00000685018.2:c.3869C>A	ENSP00000510194.2:p.Pro1290Gln
ENST00000687278.2:c.*522C>A	ENSP00000509593.2:n.*522C>A
ENST00000699585.1:c.*78C>A	ENSP00000514456.1:n.*78C>A
ENST00000699598.1:c.3869C>A	ENSP00000514467.1:p.Pro1290Gln
ENST00000699599.1:c.3869C>A	ENSP00000514468.1:p.Pro1290Gln
ENST00000699600.1:c.*530C>A	ENSP00000514469.1:n.*530C>A
ENST00000699601.1:c.*2244C>A	ENSP00000514470.1:n.*2244C>A
ENST00000699602.1:c.3863C>A	ENSP00000514471.1:p.Pro1288Gln
ENST00000699604.1:c.*3693C>A	ENSP00000514472.1:n.*3693C>A
ENST00000699605.1:c.3443C>A	ENSP00000514473.1:p.Pro1148Gln
ENST00000685018.1:c.617C>A	ENSP00000510194.1:p.Pro206Gln
ENST00000687278.1:c.1656C>A	ENSP00000509593.1:n.1656C>A
ENST00000689011.1:c.451C>A
ENST00000003084.11:c.3869C>A MANE Select	ENSP00000003084.6:p.Pro1290Gln
ENST00000647720.1:c.1319C>A
ENST00000649781.1:c.3686C>A	ENSP00000497203.1:p.Pro1229Gln
ENST00000003084.10:c.3869C>A	ENSP00000003084.6:p.Pro1290Gln
ENST00000426809.5:c.3779C>A	ENSP00000389119.1:p.Pro1260Gln
NM_000492.3:c.3869C>A , LRG_663t1:c.3869C>A	NP_000483.3:p.Pro1290Gln
XM_011515751.1:c.3959C>A	XP_011514053.1:p.Pro1320Gln
XM_011515752.1:c.3959C>A	XP_011514054.1:p.Pro1320Gln
XM_011515753.1:c.3626C>A	XP_011514055.1:p.Pro1209Gln
XM_011515754.1:c.3626C>A	XP_011514056.1:p.Pro1209Gln
NM_000492.4:c.3869C>A MANE Select	NP_000483.3:p.Pro1290Gln