Canonical Allele Identifier: CA368989247

Gene: CFTR

Linked Data

• gnomAD v4: 7-117606752-A-T
• MyVariant Identifiers: chr7:g.117246806A>T (hg19) ; chr7:g.117606752A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606752A>T , CM000669.2:g.117606752A>T	GRCh38
NC_000007.13:g.117246806A>T , CM000669.1:g.117246806A>T	GRCh37
NC_000007.12:g.117034042A>T	NCBI36
NG_016465.4:g.145969A>T , LRG_663:g.145969A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2987A>T	ENSP00000497673.2:p.Gln996Leu
ENST00000647978.2:c.*2701A>T	ENSP00000497658.1:n.*2701A>T
ENST00000649781.2:c.2804A>T	ENSP00000497203.1:p.Gln935Leu
ENST00000685018.2:c.2987A>T	ENSP00000510194.2:p.Gln996Leu
ENST00000687278.2:c.2987A>T	ENSP00000509593.2:p.Gln996Leu
ENST00000699585.1:c.2987A>T	ENSP00000514456.1:p.Gln996Leu
ENST00000699598.1:c.2987A>T	ENSP00000514467.1:p.Gln996Leu
ENST00000699599.1:c.2987A>T	ENSP00000514468.1:p.Gln996Leu
ENST00000699600.1:c.2987A>T	ENSP00000514469.1:p.Gln996Leu
ENST00000699601.1:c.*1287A>T	ENSP00000514470.1:n.*1287A>T
ENST00000699602.1:c.2987A>T	ENSP00000514471.1:p.Gln996Leu
ENST00000699604.1:c.*2811A>T	ENSP00000514472.1:n.*2811A>T
ENST00000699605.1:c.2561A>T	ENSP00000514473.1:p.Gln854Leu
ENST00000687278.1:c.578A>T	ENSP00000509593.1:p.Gln193Leu
ENST00000003084.11:c.2987A>T MANE Select	ENSP00000003084.6:p.Gln996Leu
ENST00000647720.1:c.637A>T
ENST00000648260.1:c.1769A>T	ENSP00000497957.1:p.Gln590Leu
ENST00000649406.1:c.2804A>T	ENSP00000497965.1:p.Gln935Leu
ENST00000649781.1:c.2804A>T	ENSP00000497203.1:p.Gln935Leu
ENST00000003084.10:c.2987A>T	ENSP00000003084.6:p.Gln996Leu
ENST00000426809.5:c.2897A>T	ENSP00000389119.1:p.Gln966Leu
NM_000492.3:c.2987A>T , LRG_663t1:c.2987A>T	NP_000483.3:p.Gln996Leu
XM_011515751.1:c.3077A>T	XP_011514053.1:p.Gln1026Leu
XM_011515752.1:c.3077A>T	XP_011514054.1:p.Gln1026Leu
XM_011515753.1:c.2744A>T	XP_011514055.1:p.Gln915Leu
XM_011515754.1:c.2744A>T	XP_011514056.1:p.Gln915Leu
NM_000492.4:c.2987A>T MANE Select	NP_000483.3:p.Gln996Leu