Canonical Allele Identifier: CA368988995

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117246746T>A (hg19) ; chr7:g.117606692T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606692T>A , CM000669.2:g.117606692T>A	GRCh38
NC_000007.13:g.117246746T>A , CM000669.1:g.117246746T>A	GRCh37
NC_000007.12:g.117033982T>A	NCBI36
NG_016465.4:g.145909T>A , LRG_663:g.145909T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2927T>A	ENSP00000497673.2:p.Phe976Tyr
ENST00000647978.2:c.*2641T>A	ENSP00000497658.1:n.*2641T>A
ENST00000649781.2:c.2744T>A	ENSP00000497203.1:p.Phe915Tyr
ENST00000685018.2:c.2927T>A	ENSP00000510194.2:p.Phe976Tyr
ENST00000687278.2:c.2927T>A	ENSP00000509593.2:p.Phe976Tyr
ENST00000699585.1:c.2927T>A	ENSP00000514456.1:p.Phe976Tyr
ENST00000699598.1:c.2927T>A	ENSP00000514467.1:p.Phe976Tyr
ENST00000699599.1:c.2927T>A	ENSP00000514468.1:p.Phe976Tyr
ENST00000699600.1:c.2927T>A	ENSP00000514469.1:p.Phe976Tyr
ENST00000699601.1:c.*1227T>A	ENSP00000514470.1:n.*1227T>A
ENST00000699602.1:c.2927T>A	ENSP00000514471.1:p.Phe976Tyr
ENST00000699604.1:c.*2751T>A	ENSP00000514472.1:n.*2751T>A
ENST00000699605.1:c.2501T>A	ENSP00000514473.1:p.Phe834Tyr
ENST00000687278.1:c.518T>A	ENSP00000509593.1:p.Phe173Tyr
ENST00000003084.11:c.2927T>A MANE Select	ENSP00000003084.6:p.Phe976Tyr
ENST00000647720.1:c.577T>A
ENST00000648260.1:c.1709T>A	ENSP00000497957.1:p.Phe570Tyr
ENST00000649406.1:c.2744T>A	ENSP00000497965.1:p.Phe915Tyr
ENST00000649781.1:c.2744T>A	ENSP00000497203.1:p.Phe915Tyr
ENST00000003084.10:c.2927T>A	ENSP00000003084.6:p.Phe976Tyr
ENST00000426809.5:c.2837T>A	ENSP00000389119.1:p.Phe946Tyr
NM_000492.3:c.2927T>A , LRG_663t1:c.2927T>A	NP_000483.3:p.Phe976Tyr
XM_011515751.1:c.3017T>A	XP_011514053.1:p.Phe1006Tyr
XM_011515752.1:c.3017T>A	XP_011514054.1:p.Phe1006Tyr
XM_011515753.1:c.2684T>A	XP_011514055.1:p.Phe895Tyr
XM_011515754.1:c.2684T>A	XP_011514056.1:p.Phe895Tyr
NM_000492.4:c.2927T>A MANE Select	NP_000483.3:p.Phe976Tyr