Canonical Allele Identifier: CA368983779

Gene: CFTR

Linked Data

• dbSNP Id: rs1562929177
• gnomAD v4: 7-117665550-T-A
• MyVariant Identifiers: chr7:g.117305604T>A (hg19) ; chr7:g.117665550T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665550T>A , CM000669.2:g.117665550T>A	GRCh38
NC_000007.13:g.117305604T>A , CM000669.1:g.117305604T>A	GRCh37
NC_000007.12:g.117092840T>A	NCBI36
NG_016465.4:g.204767T>A , LRG_663:g.204767T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*437T>A	ENSP00000497673.2:n.*437T>A
ENST00000647978.2:c.*3942T>A	ENSP00000497658.1:n.*3942T>A
ENST00000649781.2:c.4045T>A	ENSP00000497203.1:p.Cys1349Ser
ENST00000685018.2:c.*441T>A	ENSP00000510194.2:n.*441T>A
ENST00000687278.2:c.*881T>A	ENSP00000509593.2:n.*881T>A
ENST00000699585.1:c.*437T>A	ENSP00000514456.1:n.*437T>A
ENST00000699598.1:c.4228T>A	ENSP00000514467.1:p.Cys1410Ser
ENST00000699599.1:c.*441T>A	ENSP00000514468.1:n.*441T>A
ENST00000699600.1:c.*889T>A	ENSP00000514469.1:n.*889T>A
ENST00000699601.1:c.*2603T>A	ENSP00000514470.1:n.*2603T>A
ENST00000699602.1:c.4222T>A	ENSP00000514471.1:p.Cys1408Ser
ENST00000699604.1:c.*4052T>A	ENSP00000514472.1:n.*4052T>A
ENST00000699605.1:c.3802T>A	ENSP00000514473.1:p.Cys1268Ser
ENST00000699606.1:n.2396T>A
ENST00000685018.1:c.1092T>A	ENSP00000510194.1:n.1092T>A
ENST00000687278.1:c.2015T>A	ENSP00000509593.1:n.2015T>A
ENST00000689011.1:c.810T>A
ENST00000003084.11:c.4228T>A MANE Select	ENSP00000003084.6:p.Cys1410Ser
ENST00000647720.1:c.1678T>A
ENST00000649781.1:c.4045T>A	ENSP00000497203.1:p.Cys1349Ser
ENST00000003084.10:c.4228T>A	ENSP00000003084.6:p.Cys1410Ser
ENST00000426809.5:c.4138T>A	ENSP00000389119.1:p.Cys1380Ser
ENST00000600166.1:c.354T>A
NM_000492.3:c.4228T>A , LRG_663t1:c.4228T>A	NP_000483.3:p.Cys1410Ser
XM_011515751.1:c.4318T>A	XP_011514053.1:p.Cys1440Ser
XM_011515752.1:c.4318T>A	XP_011514054.1:p.Cys1440Ser
XM_011515753.1:c.3985T>A	XP_011514055.1:p.Cys1329Ser
XM_011515754.1:c.3985T>A	XP_011514056.1:p.Cys1329Ser
NM_000492.4:c.4228T>A MANE Select	NP_000483.3:p.Cys1410Ser