Canonical Allele Identifier: CA368993647

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117254744T>A (hg19) ; chr7:g.117614690T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614690T>A , CM000669.2:g.117614690T>A	GRCh38
NC_000007.13:g.117254744T>A , CM000669.1:g.117254744T>A	GRCh37
NC_000007.12:g.117041980T>A	NCBI36
NG_016465.4:g.153907T>A , LRG_663:g.153907T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3445T>A	ENSP00000497673.2:p.Ser1149Thr
ENST00000647978.2:c.*3159T>A	ENSP00000497658.1:n.*3159T>A
ENST00000649781.2:c.3262T>A	ENSP00000497203.1:p.Ser1088Thr
ENST00000685018.2:c.3445T>A	ENSP00000510194.2:p.Ser1149Thr
ENST00000687278.2:c.3445T>A	ENSP00000509593.2:p.Ser1149Thr
ENST00000699585.1:c.3445T>A	ENSP00000514456.1:p.Ser1149Thr
ENST00000699598.1:c.3445T>A	ENSP00000514467.1:p.Ser1149Thr
ENST00000699599.1:c.3445T>A	ENSP00000514468.1:p.Ser1149Thr
ENST00000699600.1:c.3445T>A	ENSP00000514469.1:p.Ser1149Thr
ENST00000699601.1:c.*1820T>A	ENSP00000514470.1:n.*1820T>A
ENST00000699602.1:c.3439T>A	ENSP00000514471.1:p.Ser1147Thr
ENST00000699604.1:c.*3269T>A	ENSP00000514472.1:n.*3269T>A
ENST00000699605.1:c.3019T>A	ENSP00000514473.1:p.Ser1007Thr
ENST00000685018.1:c.193T>A	ENSP00000510194.1:p.Ser65Thr
ENST00000687278.1:c.1036T>A	ENSP00000509593.1:p.Ser346Thr
ENST00000689011.1:c.27T>A
ENST00000003084.11:c.3445T>A MANE Select	ENSP00000003084.6:p.Ser1149Thr
ENST00000647720.1:c.1095T>A
ENST00000648260.1:c.2227T>A	ENSP00000497957.1:p.Ser743Thr
ENST00000649406.1:c.3262T>A	ENSP00000497965.1:p.Ser1088Thr
ENST00000649781.1:c.3262T>A	ENSP00000497203.1:p.Ser1088Thr
ENST00000003084.10:c.3445T>A	ENSP00000003084.6:p.Ser1149Thr
ENST00000426809.5:c.3355T>A	ENSP00000389119.1:p.Ser1119Thr
ENST00000468795.1:c.270T>A
NM_000492.3:c.3445T>A , LRG_663t1:c.3445T>A	NP_000483.3:p.Ser1149Thr
XM_011515751.1:c.3535T>A	XP_011514053.1:p.Ser1179Thr
XM_011515752.1:c.3535T>A	XP_011514054.1:p.Ser1179Thr
XM_011515753.1:c.3202T>A	XP_011514055.1:p.Ser1068Thr
XM_011515754.1:c.3202T>A	XP_011514056.1:p.Ser1068Thr
NM_000492.4:c.3445T>A MANE Select	NP_000483.3:p.Ser1149Thr