Canonical Allele Identifier: CA368974460

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282507A>T (hg19) ; chr7:g.117642453A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642453A>T , CM000669.2:g.117642453A>T	GRCh38
NC_000007.13:g.117282507A>T , CM000669.1:g.117282507A>T	GRCh37
NC_000007.12:g.117069743A>T	NCBI36
NG_016465.4:g.181670A>T , LRG_663:g.181670A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3533A>T	ENSP00000497673.2:p.Lys1178Met
ENST00000647978.2:c.*3447A>T	ENSP00000497658.1:n.*3447A>T
ENST00000649781.2:c.3550A>T	ENSP00000497203.1:p.Arg1184Ter
ENST00000685018.2:c.3733A>T	ENSP00000510194.2:p.Arg1245Ter
ENST00000687278.2:c.*386A>T	ENSP00000509593.2:n.*386A>T
ENST00000699585.1:c.3533A>T	ENSP00000514456.1:p.Lys1178Met
ENST00000699598.1:c.3733A>T	ENSP00000514467.1:p.Arg1245Ter
ENST00000699599.1:c.3733A>T	ENSP00000514468.1:p.Arg1245Ter
ENST00000699600.1:c.*394A>T	ENSP00000514469.1:n.*394A>T
ENST00000699601.1:c.*2108A>T	ENSP00000514470.1:n.*2108A>T
ENST00000699602.1:c.3727A>T	ENSP00000514471.1:p.Arg1243Ter
ENST00000699604.1:c.*3557A>T	ENSP00000514472.1:n.*3557A>T
ENST00000699605.1:c.3307A>T	ENSP00000514473.1:p.Arg1103Ter
ENST00000685018.1:c.481A>T	ENSP00000510194.1:p.Arg161Ter
ENST00000687278.1:c.1520A>T	ENSP00000509593.1:n.1520A>T
ENST00000689011.1:c.315A>T
ENST00000003084.11:c.3733A>T MANE Select	ENSP00000003084.6:p.Arg1245Ter
ENST00000647720.1:c.1183A>T
ENST00000649781.1:c.3550A>T	ENSP00000497203.1:p.Arg1184Ter
ENST00000003084.10:c.3733A>T	ENSP00000003084.6:p.Arg1245Ter
ENST00000426809.5:c.3643A>T	ENSP00000389119.1:p.Arg1215Ter
NM_000492.3:c.3733A>T , LRG_663t1:c.3733A>T	NP_000483.3:p.Arg1245Ter
XM_011515751.1:c.3823A>T	XP_011514053.1:p.Arg1275Ter
XM_011515752.1:c.3823A>T	XP_011514054.1:p.Arg1275Ter
XM_011515753.1:c.3490A>T	XP_011514055.1:p.Arg1164Ter
XM_011515754.1:c.3490A>T	XP_011514056.1:p.Arg1164Ter
NM_000492.4:c.3733A>T MANE Select	NP_000483.3:p.Arg1245Ter