Canonical Allele Identifier: CA368975563

Gene: CFTR

Linked Data

• dbSNP Id: rs1792936340
• MyVariant Identifiers: chr7:g.117282632T>G (hg19) ; chr7:g.117642578T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642578T>G , CM000669.2:g.117642578T>G	GRCh38
NC_000007.13:g.117282632T>G , CM000669.1:g.117282632T>G	GRCh37
NC_000007.12:g.117069868T>G	NCBI36
NG_016465.4:g.181795T>G , LRG_663:g.181795T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*67T>G	ENSP00000497673.2:n.*67T>G
ENST00000647978.2:c.*3572T>G	ENSP00000497658.1:n.*3572T>G
ENST00000649781.2:c.3675T>G	ENSP00000497203.1:p.Phe1225Leu
ENST00000685018.2:c.3858T>G	ENSP00000510194.2:p.Phe1286Leu
ENST00000687278.2:c.*511T>G	ENSP00000509593.2:n.*511T>G
ENST00000699585.1:c.*67T>G	ENSP00000514456.1:n.*67T>G
ENST00000699598.1:c.3858T>G	ENSP00000514467.1:p.Phe1286Leu
ENST00000699599.1:c.3858T>G	ENSP00000514468.1:p.Phe1286Leu
ENST00000699600.1:c.*519T>G	ENSP00000514469.1:n.*519T>G
ENST00000699601.1:c.*2233T>G	ENSP00000514470.1:n.*2233T>G
ENST00000699602.1:c.3852T>G	ENSP00000514471.1:p.Phe1284Leu
ENST00000699604.1:c.*3682T>G	ENSP00000514472.1:n.*3682T>G
ENST00000699605.1:c.3432T>G	ENSP00000514473.1:p.Phe1144Leu
ENST00000685018.1:c.606T>G	ENSP00000510194.1:p.Phe202Leu
ENST00000687278.1:c.1645T>G	ENSP00000509593.1:n.1645T>G
ENST00000689011.1:c.440T>G
ENST00000003084.11:c.3858T>G MANE Select	ENSP00000003084.6:p.Phe1286Leu
ENST00000647720.1:c.1308T>G
ENST00000649781.1:c.3675T>G	ENSP00000497203.1:p.Phe1225Leu
ENST00000003084.10:c.3858T>G	ENSP00000003084.6:p.Phe1286Leu
ENST00000426809.5:c.3768T>G	ENSP00000389119.1:p.Phe1256Leu
NM_000492.3:c.3858T>G , LRG_663t1:c.3858T>G	NP_000483.3:p.Phe1286Leu
XM_011515751.1:c.3948T>G	XP_011514053.1:p.Phe1316Leu
XM_011515752.1:c.3948T>G	XP_011514054.1:p.Phe1316Leu
XM_011515753.1:c.3615T>G	XP_011514055.1:p.Phe1205Leu
XM_011515754.1:c.3615T>G	XP_011514056.1:p.Phe1205Leu
NM_000492.4:c.3858T>G MANE Select	NP_000483.3:p.Phe1286Leu