Canonical Allele Identifier: CA368978069

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292915G>A (hg19) ; chr7:g.117652861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652861G>A , CM000669.2:g.117652861G>A	GRCh38
NC_000007.13:g.117292915G>A , CM000669.1:g.117292915G>A	GRCh37
NC_000007.12:g.117080151G>A	NCBI36
NG_016465.4:g.192078G>A , LRG_663:g.192078G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*102G>A	ENSP00000497673.2:n.*102G>A
ENST00000647978.2:c.*3607G>A	ENSP00000497658.1:n.*3607G>A
ENST00000649781.2:c.3710G>A	ENSP00000497203.1:p.Gly1237Glu
ENST00000685018.2:c.*106G>A	ENSP00000510194.2:n.*106G>A
ENST00000687278.2:c.*546G>A	ENSP00000509593.2:n.*546G>A
ENST00000699585.1:c.*102G>A	ENSP00000514456.1:n.*102G>A
ENST00000699598.1:c.3893G>A	ENSP00000514467.1:p.Gly1298Glu
ENST00000699599.1:c.*106G>A	ENSP00000514468.1:n.*106G>A
ENST00000699600.1:c.*554G>A	ENSP00000514469.1:n.*554G>A
ENST00000699601.1:c.*2268G>A	ENSP00000514470.1:n.*2268G>A
ENST00000699602.1:c.3887G>A	ENSP00000514471.1:p.Gly1296Glu
ENST00000699604.1:c.*3717G>A	ENSP00000514472.1:n.*3717G>A
ENST00000699605.1:c.3467G>A	ENSP00000514473.1:p.Gly1156Glu
ENST00000699606.1:n.2061G>A
ENST00000685018.1:c.757G>A	ENSP00000510194.1:n.757G>A
ENST00000687278.1:c.1680G>A	ENSP00000509593.1:n.1680G>A
ENST00000689011.1:c.475G>A
ENST00000003084.11:c.3893G>A MANE Select	ENSP00000003084.6:p.Gly1298Glu
ENST00000647720.1:c.1343G>A
ENST00000649781.1:c.3710G>A	ENSP00000497203.1:p.Gly1237Glu
ENST00000003084.10:c.3893G>A	ENSP00000003084.6:p.Gly1298Glu
ENST00000426809.5:c.3803G>A	ENSP00000389119.1:p.Gly1268Glu
ENST00000600166.1:c.19G>A
NM_000492.3:c.3893G>A , LRG_663t1:c.3893G>A	NP_000483.3:p.Gly1298Glu
XM_011515751.1:c.3983G>A	XP_011514053.1:p.Gly1328Glu
XM_011515752.1:c.3983G>A	XP_011514054.1:p.Gly1328Glu
XM_011515753.1:c.3650G>A	XP_011514055.1:p.Gly1217Glu
XM_011515754.1:c.3650G>A	XP_011514056.1:p.Gly1217Glu
NM_000492.4:c.3893G>A MANE Select	NP_000483.3:p.Gly1298Glu