Canonical Allele Identifier: CA368975068

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282579A>T (hg19) ; chr7:g.117642525A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642525A>T , CM000669.2:g.117642525A>T	GRCh38
NC_000007.13:g.117282579A>T , CM000669.1:g.117282579A>T	GRCh37
NC_000007.12:g.117069815A>T	NCBI36
NG_016465.4:g.181742A>T , LRG_663:g.181742A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*14A>T	ENSP00000497673.2:n.*14A>T
ENST00000647978.2:c.*3519A>T	ENSP00000497658.1:n.*3519A>T
ENST00000649781.2:c.3622A>T	ENSP00000497203.1:p.Ile1208Phe
ENST00000685018.2:c.3805A>T	ENSP00000510194.2:p.Ile1269Phe
ENST00000687278.2:c.*458A>T	ENSP00000509593.2:n.*458A>T
ENST00000699585.1:c.*14A>T	ENSP00000514456.1:n.*14A>T
ENST00000699598.1:c.3805A>T	ENSP00000514467.1:p.Ile1269Phe
ENST00000699599.1:c.3805A>T	ENSP00000514468.1:p.Ile1269Phe
ENST00000699600.1:c.*466A>T	ENSP00000514469.1:n.*466A>T
ENST00000699601.1:c.*2180A>T	ENSP00000514470.1:n.*2180A>T
ENST00000699602.1:c.3799A>T	ENSP00000514471.1:p.Ile1267Phe
ENST00000699604.1:c.*3629A>T	ENSP00000514472.1:n.*3629A>T
ENST00000699605.1:c.3379A>T	ENSP00000514473.1:p.Ile1127Phe
ENST00000685018.1:c.553A>T	ENSP00000510194.1:p.Ile185Phe
ENST00000687278.1:c.1592A>T	ENSP00000509593.1:n.1592A>T
ENST00000689011.1:c.387A>T
ENST00000003084.11:c.3805A>T MANE Select	ENSP00000003084.6:p.Ile1269Phe
ENST00000647720.1:c.1255A>T
ENST00000649781.1:c.3622A>T	ENSP00000497203.1:p.Ile1208Phe
ENST00000003084.10:c.3805A>T	ENSP00000003084.6:p.Ile1269Phe
ENST00000426809.5:c.3715A>T	ENSP00000389119.1:p.Ile1239Phe
NM_000492.3:c.3805A>T , LRG_663t1:c.3805A>T	NP_000483.3:p.Ile1269Phe
XM_011515751.1:c.3895A>T	XP_011514053.1:p.Ile1299Phe
XM_011515752.1:c.3895A>T	XP_011514054.1:p.Ile1299Phe
XM_011515753.1:c.3562A>T	XP_011514055.1:p.Ile1188Phe
XM_011515754.1:c.3562A>T	XP_011514056.1:p.Ile1188Phe
NM_000492.4:c.3805A>T MANE Select	NP_000483.3:p.Ile1269Phe