Canonical Allele Identifier: CA368996048

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267598T>A (hg19) ; chr7:g.117627544T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627544T>A , CM000669.2:g.117627544T>A	GRCh38
NC_000007.13:g.117267598T>A , CM000669.1:g.117267598T>A	GRCh37
NC_000007.12:g.117054834T>A	NCBI36
NG_016465.4:g.166761T>A , LRG_663:g.166761T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3491T>A	ENSP00000497673.2:p.Phe1164Tyr
ENST00000647978.2:c.*3205T>A	ENSP00000497658.1:n.*3205T>A
ENST00000649781.2:c.3308T>A	ENSP00000497203.1:p.Phe1103Tyr
ENST00000685018.2:c.3491T>A	ENSP00000510194.2:p.Phe1164Tyr
ENST00000687278.2:c.*144T>A	ENSP00000509593.2:n.*144T>A
ENST00000699585.1:c.3491T>A	ENSP00000514456.1:p.Phe1164Tyr
ENST00000699598.1:c.3491T>A	ENSP00000514467.1:p.Phe1164Tyr
ENST00000699599.1:c.3491T>A	ENSP00000514468.1:p.Phe1164Tyr
ENST00000699600.1:c.*152T>A	ENSP00000514469.1:n.*152T>A
ENST00000699601.1:c.*1866T>A	ENSP00000514470.1:n.*1866T>A
ENST00000699602.1:c.3485T>A	ENSP00000514471.1:p.Phe1162Tyr
ENST00000699604.1:c.*3315T>A	ENSP00000514472.1:n.*3315T>A
ENST00000699605.1:c.3065T>A	ENSP00000514473.1:p.Phe1022Tyr
ENST00000685018.1:c.239T>A	ENSP00000510194.1:p.Phe80Tyr
ENST00000687278.1:c.1278T>A	ENSP00000509593.1:n.1278T>A
ENST00000689011.1:c.73T>A
ENST00000003084.11:c.3491T>A MANE Select	ENSP00000003084.6:p.Phe1164Tyr
ENST00000647720.1:c.1141T>A
ENST00000648260.1:c.2273T>A	ENSP00000497957.1:p.Phe758Tyr
ENST00000649406.1:c.3308T>A	ENSP00000497965.1:p.Phe1103Tyr
ENST00000649781.1:c.3308T>A	ENSP00000497203.1:p.Phe1103Tyr
ENST00000003084.10:c.3491T>A	ENSP00000003084.6:p.Phe1164Tyr
ENST00000426809.5:c.3401T>A	ENSP00000389119.1:p.Phe1134Tyr
ENST00000468795.1:c.316T>A
NM_000492.3:c.3491T>A , LRG_663t1:c.3491T>A	NP_000483.3:p.Phe1164Tyr
XM_011515751.1:c.3581T>A	XP_011514053.1:p.Phe1194Tyr
XM_011515752.1:c.3581T>A	XP_011514054.1:p.Phe1194Tyr
XM_011515753.1:c.3248T>A	XP_011514055.1:p.Phe1083Tyr
XM_011515754.1:c.3248T>A	XP_011514056.1:p.Phe1083Tyr
NM_000492.4:c.3491T>A MANE Select	NP_000483.3:p.Phe1164Tyr