Canonical Allele Identifier: CA368978066

Gene: CFTR

Linked Data

• gnomAD v4: 7-117652860-G-T
• MyVariant Identifiers: chr7:g.117292914G>T (hg19) ; chr7:g.117652860G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652860G>T , CM000669.2:g.117652860G>T	GRCh38
NC_000007.13:g.117292914G>T , CM000669.1:g.117292914G>T	GRCh37
NC_000007.12:g.117080150G>T	NCBI36
NG_016465.4:g.192077G>T , LRG_663:g.192077G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*101G>T	ENSP00000497673.2:n.*101G>T
ENST00000647978.2:c.*3606G>T	ENSP00000497658.1:n.*3606G>T
ENST00000649781.2:c.3709G>T	ENSP00000497203.1:p.Gly1237Ter
ENST00000685018.2:c.*105G>T	ENSP00000510194.2:n.*105G>T
ENST00000687278.2:c.*545G>T	ENSP00000509593.2:n.*545G>T
ENST00000699585.1:c.*101G>T	ENSP00000514456.1:n.*101G>T
ENST00000699598.1:c.3892G>T	ENSP00000514467.1:p.Gly1298Ter
ENST00000699599.1:c.*105G>T	ENSP00000514468.1:n.*105G>T
ENST00000699600.1:c.*553G>T	ENSP00000514469.1:n.*553G>T
ENST00000699601.1:c.*2267G>T	ENSP00000514470.1:n.*2267G>T
ENST00000699602.1:c.3886G>T	ENSP00000514471.1:p.Gly1296Ter
ENST00000699604.1:c.*3716G>T	ENSP00000514472.1:n.*3716G>T
ENST00000699605.1:c.3466G>T	ENSP00000514473.1:p.Gly1156Ter
ENST00000699606.1:n.2060G>T
ENST00000685018.1:c.756G>T	ENSP00000510194.1:n.756G>T
ENST00000687278.1:c.1679G>T	ENSP00000509593.1:n.1679G>T
ENST00000689011.1:c.474G>T
ENST00000003084.11:c.3892G>T MANE Select	ENSP00000003084.6:p.Gly1298Ter
ENST00000647720.1:c.1342G>T
ENST00000649781.1:c.3709G>T	ENSP00000497203.1:p.Gly1237Ter
ENST00000003084.10:c.3892G>T	ENSP00000003084.6:p.Gly1298Ter
ENST00000426809.5:c.3802G>T	ENSP00000389119.1:p.Gly1268Ter
ENST00000600166.1:c.18G>T
NM_000492.3:c.3892G>T , LRG_663t1:c.3892G>T	NP_000483.3:p.Gly1298Ter
XM_011515751.1:c.3982G>T	XP_011514053.1:p.Gly1328Ter
XM_011515752.1:c.3982G>T	XP_011514054.1:p.Gly1328Ter
XM_011515753.1:c.3649G>T	XP_011514055.1:p.Gly1217Ter
XM_011515754.1:c.3649G>T	XP_011514056.1:p.Gly1217Ter
NM_000492.4:c.3892G>T MANE Select	NP_000483.3:p.Gly1298Ter