Canonical Allele Identifier: CA368996052

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267599T>G (hg19) ; chr7:g.117627545T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627545T>G , CM000669.2:g.117627545T>G	GRCh38
NC_000007.13:g.117267599T>G , CM000669.1:g.117267599T>G	GRCh37
NC_000007.12:g.117054835T>G	NCBI36
NG_016465.4:g.166762T>G , LRG_663:g.166762T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3492T>G	ENSP00000497673.2:p.Phe1164Leu
ENST00000647978.2:c.*3206T>G	ENSP00000497658.1:n.*3206T>G
ENST00000649781.2:c.3309T>G	ENSP00000497203.1:p.Phe1103Leu
ENST00000685018.2:c.3492T>G	ENSP00000510194.2:p.Phe1164Leu
ENST00000687278.2:c.*145T>G	ENSP00000509593.2:n.*145T>G
ENST00000699585.1:c.3492T>G	ENSP00000514456.1:p.Phe1164Leu
ENST00000699598.1:c.3492T>G	ENSP00000514467.1:p.Phe1164Leu
ENST00000699599.1:c.3492T>G	ENSP00000514468.1:p.Phe1164Leu
ENST00000699600.1:c.*153T>G	ENSP00000514469.1:n.*153T>G
ENST00000699601.1:c.*1867T>G	ENSP00000514470.1:n.*1867T>G
ENST00000699602.1:c.3486T>G	ENSP00000514471.1:p.Phe1162Leu
ENST00000699604.1:c.*3316T>G	ENSP00000514472.1:n.*3316T>G
ENST00000699605.1:c.3066T>G	ENSP00000514473.1:p.Phe1022Leu
ENST00000685018.1:c.240T>G	ENSP00000510194.1:p.Phe80Leu
ENST00000687278.1:c.1279T>G	ENSP00000509593.1:n.1279T>G
ENST00000689011.1:c.74T>G
ENST00000003084.11:c.3492T>G MANE Select	ENSP00000003084.6:p.Phe1164Leu
ENST00000647720.1:c.1142T>G
ENST00000648260.1:c.2274T>G	ENSP00000497957.1:p.Phe758Leu
ENST00000649406.1:c.3309T>G	ENSP00000497965.1:p.Phe1103Leu
ENST00000649781.1:c.3309T>G	ENSP00000497203.1:p.Phe1103Leu
ENST00000003084.10:c.3492T>G	ENSP00000003084.6:p.Phe1164Leu
ENST00000426809.5:c.3402T>G	ENSP00000389119.1:p.Phe1134Leu
ENST00000468795.1:c.317T>G
NM_000492.3:c.3492T>G , LRG_663t1:c.3492T>G	NP_000483.3:p.Phe1164Leu
XM_011515751.1:c.3582T>G	XP_011514053.1:p.Phe1194Leu
XM_011515752.1:c.3582T>G	XP_011514054.1:p.Phe1194Leu
XM_011515753.1:c.3249T>G	XP_011514055.1:p.Phe1083Leu
XM_011515754.1:c.3249T>G	XP_011514056.1:p.Phe1083Leu
NM_000492.4:c.3492T>G MANE Select	NP_000483.3:p.Phe1164Leu