Canonical Allele Identifier: CA368974482

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282511C>A (hg19) ; chr7:g.117642457C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642457C>A , CM000669.2:g.117642457C>A	GRCh38
NC_000007.13:g.117282511C>A , CM000669.1:g.117282511C>A	GRCh37
NC_000007.12:g.117069747C>A	NCBI36
NG_016465.4:g.181674C>A , LRG_663:g.181674C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3537C>A	ENSP00000497673.2:p.Asn1179Lys
ENST00000647978.2:c.*3451C>A	ENSP00000497658.1:n.*3451C>A
ENST00000649781.2:c.3554C>A	ENSP00000497203.1:p.Thr1185Asn
ENST00000685018.2:c.3737C>A	ENSP00000510194.2:p.Thr1246Asn
ENST00000687278.2:c.*390C>A	ENSP00000509593.2:n.*390C>A
ENST00000699585.1:c.3537C>A	ENSP00000514456.1:p.Asn1179Lys
ENST00000699598.1:c.3737C>A	ENSP00000514467.1:p.Thr1246Asn
ENST00000699599.1:c.3737C>A	ENSP00000514468.1:p.Thr1246Asn
ENST00000699600.1:c.*398C>A	ENSP00000514469.1:n.*398C>A
ENST00000699601.1:c.*2112C>A	ENSP00000514470.1:n.*2112C>A
ENST00000699602.1:c.3731C>A	ENSP00000514471.1:p.Thr1244Asn
ENST00000699604.1:c.*3561C>A	ENSP00000514472.1:n.*3561C>A
ENST00000699605.1:c.3311C>A	ENSP00000514473.1:p.Thr1104Asn
ENST00000685018.1:c.485C>A	ENSP00000510194.1:p.Thr162Asn
ENST00000687278.1:c.1524C>A	ENSP00000509593.1:n.1524C>A
ENST00000689011.1:c.319C>A
ENST00000003084.11:c.3737C>A MANE Select	ENSP00000003084.6:p.Thr1246Asn
ENST00000647720.1:c.1187C>A
ENST00000649781.1:c.3554C>A	ENSP00000497203.1:p.Thr1185Asn
ENST00000003084.10:c.3737C>A	ENSP00000003084.6:p.Thr1246Asn
ENST00000426809.5:c.3647C>A	ENSP00000389119.1:p.Thr1216Asn
NM_000492.3:c.3737C>A , LRG_663t1:c.3737C>A	NP_000483.3:p.Thr1246Asn
XM_011515751.1:c.3827C>A	XP_011514053.1:p.Thr1276Asn
XM_011515752.1:c.3827C>A	XP_011514054.1:p.Thr1276Asn
XM_011515753.1:c.3494C>A	XP_011514055.1:p.Thr1165Asn
XM_011515754.1:c.3494C>A	XP_011514056.1:p.Thr1165Asn
NM_000492.4:c.3737C>A MANE Select	NP_000483.3:p.Thr1246Asn