Canonical Allele Identifier: CA368974782

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282551A>T (hg19) ; chr7:g.117642497A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642497A>T , CM000669.2:g.117642497A>T	GRCh38
NC_000007.13:g.117282551A>T , CM000669.1:g.117282551A>T	GRCh37
NC_000007.12:g.117069787A>T	NCBI36
NG_016465.4:g.181714A>T , LRG_663:g.181714A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3577A>T	ENSP00000497673.2:p.Thr1193Ser
ENST00000647978.2:c.*3491A>T	ENSP00000497658.1:n.*3491A>T
ENST00000649781.2:c.3594A>T	ENSP00000497203.1:p.Arg1198Ser
ENST00000685018.2:c.3777A>T	ENSP00000510194.2:p.Arg1259Ser
ENST00000687278.2:c.*430A>T	ENSP00000509593.2:n.*430A>T
ENST00000699585.1:c.3577A>T	ENSP00000514456.1:p.Thr1193Ser
ENST00000699598.1:c.3777A>T	ENSP00000514467.1:p.Arg1259Ser
ENST00000699599.1:c.3777A>T	ENSP00000514468.1:p.Arg1259Ser
ENST00000699600.1:c.*438A>T	ENSP00000514469.1:n.*438A>T
ENST00000699601.1:c.*2152A>T	ENSP00000514470.1:n.*2152A>T
ENST00000699602.1:c.3771A>T	ENSP00000514471.1:p.Arg1257Ser
ENST00000699604.1:c.*3601A>T	ENSP00000514472.1:n.*3601A>T
ENST00000699605.1:c.3351A>T	ENSP00000514473.1:p.Arg1117Ser
ENST00000685018.1:c.525A>T	ENSP00000510194.1:p.Arg175Ser
ENST00000687278.1:c.1564A>T	ENSP00000509593.1:n.1564A>T
ENST00000689011.1:c.359A>T
ENST00000003084.11:c.3777A>T MANE Select	ENSP00000003084.6:p.Arg1259Ser
ENST00000647720.1:c.1227A>T
ENST00000649781.1:c.3594A>T	ENSP00000497203.1:p.Arg1198Ser
ENST00000003084.10:c.3777A>T	ENSP00000003084.6:p.Arg1259Ser
ENST00000426809.5:c.3687A>T	ENSP00000389119.1:p.Arg1229Ser
NM_000492.3:c.3777A>T , LRG_663t1:c.3777A>T	NP_000483.3:p.Arg1259Ser
XM_011515751.1:c.3867A>T	XP_011514053.1:p.Arg1289Ser
XM_011515752.1:c.3867A>T	XP_011514054.1:p.Arg1289Ser
XM_011515753.1:c.3534A>T	XP_011514055.1:p.Arg1178Ser
XM_011515754.1:c.3534A>T	XP_011514056.1:p.Arg1178Ser
NM_000492.4:c.3777A>T MANE Select	NP_000483.3:p.Arg1259Ser