Canonical Allele Identifier: CA368986439

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117243619T>G (hg19) ; chr7:g.117603565T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603565T>G , CM000669.2:g.117603565T>G	GRCh38
NC_000007.13:g.117243619T>G , CM000669.1:g.117243619T>G	GRCh37
NC_000007.12:g.117030855T>G	NCBI36
NG_016465.4:g.142782T>G , LRG_663:g.142782T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2691T>G	ENSP00000497673.2:p.His897Gln
ENST00000647978.2:c.*2405T>G	ENSP00000497658.1:n.*2405T>G
ENST00000649781.2:c.2508T>G	ENSP00000497203.1:p.His836Gln
ENST00000685018.2:c.2691T>G	ENSP00000510194.2:p.His897Gln
ENST00000687278.2:c.2691T>G	ENSP00000509593.2:p.His897Gln
ENST00000699585.1:c.2691T>G	ENSP00000514456.1:p.His897Gln
ENST00000699598.1:c.2691T>G	ENSP00000514467.1:p.His897Gln
ENST00000699599.1:c.2691T>G	ENSP00000514468.1:p.His897Gln
ENST00000699600.1:c.2691T>G	ENSP00000514469.1:p.His897Gln
ENST00000699601.1:c.*991T>G	ENSP00000514470.1:n.*991T>G
ENST00000699602.1:c.2691T>G	ENSP00000514471.1:p.His897Gln
ENST00000699604.1:c.*2515T>G	ENSP00000514472.1:n.*2515T>G
ENST00000699605.1:c.2265T>G	ENSP00000514473.1:p.His755Gln
ENST00000687278.1:c.282T>G	ENSP00000509593.1:p.His94Gln
ENST00000003084.11:c.2691T>G MANE Select	ENSP00000003084.6:p.His897Gln
ENST00000647720.1:c.341T>G
ENST00000648260.1:c.1473T>G	ENSP00000497957.1:p.His491Gln
ENST00000649406.1:c.2508T>G	ENSP00000497965.1:p.His836Gln
ENST00000649781.1:c.2508T>G	ENSP00000497203.1:p.His836Gln
ENST00000003084.10:c.2691T>G	ENSP00000003084.6:p.His897Gln
ENST00000426809.5:c.2601T>G	ENSP00000389119.1:p.His867Gln
NM_000492.3:c.2691T>G , LRG_663t1:c.2691T>G	NP_000483.3:p.His897Gln
XM_011515751.1:c.2781T>G	XP_011514053.1:p.His927Gln
XM_011515752.1:c.2781T>G	XP_011514054.1:p.His927Gln
XM_011515753.1:c.2448T>G	XP_011514055.1:p.His816Gln
XM_011515754.1:c.2448T>G	XP_011514056.1:p.His816Gln
NM_000492.4:c.2691T>G MANE Select	NP_000483.3:p.His897Gln