Canonical Allele Identifier: CA368984388

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117306969A>C (hg19) ; chr7:g.117666915A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666915A>C , CM000669.2:g.117666915A>C	GRCh38
NC_000007.13:g.117306969A>C , CM000669.1:g.117306969A>C	GRCh37
NC_000007.12:g.117094205A>C	NCBI36
NG_016465.4:g.206132A>C , LRG_663:g.206132A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*459A>C	ENSP00000497673.2:n.*459A>C
ENST00000647978.2:c.*3964A>C	ENSP00000497658.1:n.*3964A>C
ENST00000649781.2:c.4067A>C	ENSP00000497203.1:p.Glu1356Ala
ENST00000685018.2:c.*463A>C	ENSP00000510194.2:n.*463A>C
ENST00000687278.2:c.*896-687A>C	ENSP00000509593.2:n.*896-687A>C
ENST00000699585.1:c.*719A>C	ENSP00000514456.1:n.*719A>C
ENST00000699598.1:c.4243A>C	ENSP00000514467.1:p.Lys1415Gln
ENST00000699599.1:c.*463A>C	ENSP00000514468.1:n.*463A>C
ENST00000699600.1:c.*904-687A>C	ENSP00000514469.1:n.*904-687A>C
ENST00000699601.1:c.*2625A>C	ENSP00000514470.1:n.*2625A>C
ENST00000699602.1:c.4244A>C	ENSP00000514471.1:p.Glu1415Ala
ENST00000699604.1:c.*4074A>C	ENSP00000514472.1:n.*4074A>C
ENST00000699605.1:c.3824A>C	ENSP00000514473.1:p.Glu1275Ala
ENST00000699606.1:n.3761A>C
ENST00000685018.1:c.1114A>C	ENSP00000510194.1:n.1114A>C
ENST00000687278.1:c.2030-687A>C	ENSP00000509593.1:n.2030-687A>C
ENST00000689011.1:c.1092A>C
ENST00000003084.11:c.4250A>C MANE Select	ENSP00000003084.6:p.Glu1417Ala
ENST00000647720.1:c.1700A>C
ENST00000649781.1:c.4067A>C	ENSP00000497203.1:p.Glu1356Ala
ENST00000003084.10:c.4250A>C	ENSP00000003084.6:p.Glu1417Ala
ENST00000426809.5:c.4160A>C	ENSP00000389119.1:p.Glu1387Ala
ENST00000600166.1:c.368+1351A>C
NM_000492.3:c.4250A>C , LRG_663t1:c.4250A>C	NP_000483.3:p.Glu1417Ala
XM_011515751.1:c.4340A>C	XP_011514053.1:p.Glu1447Ala
XM_011515753.1:c.4007A>C	XP_011514055.1:p.Glu1336Ala
XM_011515754.1:c.4007A>C	XP_011514056.1:p.Glu1336Ala
NM_000492.4:c.4250A>C MANE Select	NP_000483.3:p.Glu1417Ala