Canonical Allele Identifier: CA368983373

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305526A>T (hg19) ; chr7:g.117665472A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665472A>T , CM000669.2:g.117665472A>T	GRCh38
NC_000007.13:g.117305526A>T , CM000669.1:g.117305526A>T	GRCh37
NC_000007.12:g.117092762A>T	NCBI36
NG_016465.4:g.204689A>T , LRG_663:g.204689A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*359A>T	ENSP00000497673.2:n.*359A>T
ENST00000647978.2:c.*3864A>T	ENSP00000497658.1:n.*3864A>T
ENST00000649781.2:c.3967A>T	ENSP00000497203.1:p.Ile1323Phe
ENST00000685018.2:c.*363A>T	ENSP00000510194.2:n.*363A>T
ENST00000687278.2:c.*803A>T	ENSP00000509593.2:n.*803A>T
ENST00000699585.1:c.*359A>T	ENSP00000514456.1:n.*359A>T
ENST00000699598.1:c.4150A>T	ENSP00000514467.1:p.Ile1384Phe
ENST00000699599.1:c.*363A>T	ENSP00000514468.1:n.*363A>T
ENST00000699600.1:c.*811A>T	ENSP00000514469.1:n.*811A>T
ENST00000699601.1:c.*2525A>T	ENSP00000514470.1:n.*2525A>T
ENST00000699602.1:c.4144A>T	ENSP00000514471.1:p.Ile1382Phe
ENST00000699604.1:c.*3974A>T	ENSP00000514472.1:n.*3974A>T
ENST00000699605.1:c.3724A>T	ENSP00000514473.1:p.Ile1242Phe
ENST00000699606.1:n.2318A>T
ENST00000685018.1:c.1014A>T	ENSP00000510194.1:n.1014A>T
ENST00000687278.1:c.1937A>T	ENSP00000509593.1:n.1937A>T
ENST00000689011.1:c.732A>T
ENST00000003084.11:c.4150A>T MANE Select	ENSP00000003084.6:p.Ile1384Phe
ENST00000647720.1:c.1600A>T
ENST00000649781.1:c.3967A>T	ENSP00000497203.1:p.Ile1323Phe
ENST00000003084.10:c.4150A>T	ENSP00000003084.6:p.Ile1384Phe
ENST00000426809.5:c.4060A>T	ENSP00000389119.1:p.Ile1354Phe
ENST00000600166.1:c.276A>T
NM_000492.3:c.4150A>T , LRG_663t1:c.4150A>T	NP_000483.3:p.Ile1384Phe
XM_011515751.1:c.4240A>T	XP_011514053.1:p.Ile1414Phe
XM_011515752.1:c.4240A>T	XP_011514054.1:p.Ile1414Phe
XM_011515753.1:c.3907A>T	XP_011514055.1:p.Ile1303Phe
XM_011515754.1:c.3907A>T	XP_011514056.1:p.Ile1303Phe
NM_000492.4:c.4150A>T MANE Select	NP_000483.3:p.Ile1384Phe