Canonical Allele Identifier: CA368992162

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117251721A>T (hg19) ; chr7:g.117611667A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611667A>T , CM000669.2:g.117611667A>T	GRCh38
NC_000007.13:g.117251721A>T , CM000669.1:g.117251721A>T	GRCh37
NC_000007.12:g.117038957A>T	NCBI36
NG_016465.4:g.150884A>T , LRG_663:g.150884A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3226A>T	ENSP00000497673.2:p.Thr1076Ser
ENST00000647978.2:c.*2940A>T	ENSP00000497658.1:n.*2940A>T
ENST00000649781.2:c.3043A>T	ENSP00000497203.1:p.Thr1015Ser
ENST00000685018.2:c.3226A>T	ENSP00000510194.2:p.Thr1076Ser
ENST00000687278.2:c.3226A>T	ENSP00000509593.2:p.Thr1076Ser
ENST00000699585.1:c.3226A>T	ENSP00000514456.1:p.Thr1076Ser
ENST00000699598.1:c.3226A>T	ENSP00000514467.1:p.Thr1076Ser
ENST00000699599.1:c.3226A>T	ENSP00000514468.1:p.Thr1076Ser
ENST00000699600.1:c.3226A>T	ENSP00000514469.1:p.Thr1076Ser
ENST00000699601.1:c.*1526A>T	ENSP00000514470.1:n.*1526A>T
ENST00000699602.1:c.3226A>T	ENSP00000514471.1:p.Thr1076Ser
ENST00000699604.1:c.*3050A>T	ENSP00000514472.1:n.*3050A>T
ENST00000699605.1:c.2800A>T	ENSP00000514473.1:p.Thr934Ser
ENST00000687278.1:c.817A>T	ENSP00000509593.1:p.Thr273Ser
ENST00000003084.11:c.3226A>T MANE Select	ENSP00000003084.6:p.Thr1076Ser
ENST00000647720.1:c.876A>T
ENST00000648260.1:c.2008A>T	ENSP00000497957.1:p.Thr670Ser
ENST00000649406.1:c.3043A>T	ENSP00000497965.1:p.Thr1015Ser
ENST00000649781.1:c.3043A>T	ENSP00000497203.1:p.Thr1015Ser
ENST00000003084.10:c.3226A>T	ENSP00000003084.6:p.Thr1076Ser
ENST00000426809.5:c.3136A>T	ENSP00000389119.1:p.Thr1046Ser
ENST00000468795.1:c.51A>T
NM_000492.3:c.3226A>T , LRG_663t1:c.3226A>T	NP_000483.3:p.Thr1076Ser
XM_011515751.1:c.3316A>T	XP_011514053.1:p.Thr1106Ser
XM_011515752.1:c.3316A>T	XP_011514054.1:p.Thr1106Ser
XM_011515753.1:c.2983A>T	XP_011514055.1:p.Thr995Ser
XM_011515754.1:c.2983A>T	XP_011514056.1:p.Thr995Ser
NM_000492.4:c.3226A>T MANE Select	NP_000483.3:p.Thr1076Ser