Canonical Allele Identifier: CA368982719

Gene: CFTR

Linked Data

• dbSNP Id: rs772157232
• MyVariant Identifiers: chr7:g.117304859C>T (hg19) ; chr7:g.117664805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664805C>T , CM000669.2:g.117664805C>T	GRCh38
NC_000007.13:g.117304859C>T , CM000669.1:g.117304859C>T	GRCh37
NC_000007.12:g.117092095C>T	NCBI36
NG_016465.4:g.204022C>T , LRG_663:g.204022C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*290C>T	ENSP00000497673.2:n.*290C>T
ENST00000647978.2:c.*3795C>T	ENSP00000497658.1:n.*3795C>T
ENST00000649781.2:c.3898C>T	ENSP00000497203.1:p.Leu1300Phe
ENST00000685018.2:c.*294C>T	ENSP00000510194.2:n.*294C>T
ENST00000687278.2:c.*734C>T	ENSP00000509593.2:n.*734C>T
ENST00000699585.1:c.*290C>T	ENSP00000514456.1:n.*290C>T
ENST00000699598.1:c.4081C>T	ENSP00000514467.1:p.Leu1361Phe
ENST00000699599.1:c.*294C>T	ENSP00000514468.1:n.*294C>T
ENST00000699600.1:c.*742C>T	ENSP00000514469.1:n.*742C>T
ENST00000699601.1:c.*2456C>T	ENSP00000514470.1:n.*2456C>T
ENST00000699602.1:c.4075C>T	ENSP00000514471.1:p.Leu1359Phe
ENST00000699604.1:c.*3905C>T	ENSP00000514472.1:n.*3905C>T
ENST00000699605.1:c.3655C>T	ENSP00000514473.1:p.Leu1219Phe
ENST00000699606.1:n.2249C>T
ENST00000685018.1:c.945C>T	ENSP00000510194.1:n.945C>T
ENST00000687278.1:c.1868C>T	ENSP00000509593.1:n.1868C>T
ENST00000689011.1:c.663C>T
ENST00000003084.11:c.4081C>T MANE Select	ENSP00000003084.6:p.Leu1361Phe
ENST00000647720.1:c.1531C>T
ENST00000649781.1:c.3898C>T	ENSP00000497203.1:p.Leu1300Phe
ENST00000003084.10:c.4081C>T	ENSP00000003084.6:p.Leu1361Phe
ENST00000426809.5:c.3991C>T	ENSP00000389119.1:p.Leu1331Phe
ENST00000600166.1:c.207C>T
NM_000492.3:c.4081C>T , LRG_663t1:c.4081C>T	NP_000483.3:p.Leu1361Phe
XM_011515751.1:c.4171C>T	XP_011514053.1:p.Leu1391Phe
XM_011515752.1:c.4171C>T	XP_011514054.1:p.Leu1391Phe
XM_011515753.1:c.3838C>T	XP_011514055.1:p.Leu1280Phe
XM_011515754.1:c.3838C>T	XP_011514056.1:p.Leu1280Phe
NM_000492.4:c.4081C>T MANE Select	NP_000483.3:p.Leu1361Phe