Canonical Allele Identifier: CA328120

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53797
• ClinVar RCV Id: RCV000056386 ; RCV000211150 ; RCV000763160 ; RCV001004504 ; RCV001831779 ; RCV002247437 ; RCV003474587 ; RCV003982868
• dbSNP Id: rs267606723
• ExAC: 7:117282505 G / A
• gnomAD v2: 7-117282505-G-A
• gnomAD v3: 7-117642451-G-A
• gnomAD v4: 7-117642451-G-A
• MyVariant Identifiers: chr7:g.117282505G>A (hg19) ; chr7:g.117642451G>A (hg38)
• PubMed: PMID:1382316 ; PMID:1709778 ; PMID:10388469 ; PMID:11242048 ; PMID:11448786 ; PMID:15638824 ; PMID:15948195 ; PMID:22293084 ; PMID:22992668 ; PMID:23974870 ; PMID:24440181 ; PMID:25910067

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642451G>A , CM000669.2:g.117642451G>A	GRCh38
NC_000007.13:g.117282505G>A , CM000669.1:g.117282505G>A	GRCh37
NC_000007.12:g.117069741G>A	NCBI36
NG_016465.4:g.181668G>A , LRG_663:g.181668G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3531G>A	ENSP00000497673.2:p.Gly1177=
ENST00000647978.2:c.*3445G>A	ENSP00000497658.1:n.*3445G>A
ENST00000649781.2:c.3548G>A	ENSP00000497203.1:p.Gly1183Glu
ENST00000685018.2:c.3731G>A	ENSP00000510194.2:p.Gly1244Glu
ENST00000687278.2:c.*384G>A	ENSP00000509593.2:n.*384G>A
ENST00000699585.1:c.3531G>A	ENSP00000514456.1:p.Gly1177=
ENST00000699598.1:c.3731G>A	ENSP00000514467.1:p.Gly1244Glu
ENST00000699599.1:c.3731G>A	ENSP00000514468.1:p.Gly1244Glu
ENST00000699600.1:c.*392G>A	ENSP00000514469.1:n.*392G>A
ENST00000699601.1:c.*2106G>A	ENSP00000514470.1:n.*2106G>A
ENST00000699602.1:c.3725G>A	ENSP00000514471.1:p.Gly1242Glu
ENST00000699604.1:c.*3555G>A	ENSP00000514472.1:n.*3555G>A
ENST00000699605.1:c.3305G>A	ENSP00000514473.1:p.Gly1102Glu
ENST00000685018.1:c.479G>A	ENSP00000510194.1:p.Gly160Glu
ENST00000687278.1:c.1518G>A	ENSP00000509593.1:n.1518G>A
ENST00000689011.1:c.313G>A
ENST00000003084.11:c.3731G>A MANE Select	ENSP00000003084.6:p.Gly1244Glu
ENST00000647720.1:c.1181G>A
ENST00000649781.1:c.3548G>A	ENSP00000497203.1:p.Gly1183Glu
ENST00000003084.10:c.3731G>A	ENSP00000003084.6:p.Gly1244Glu
ENST00000426809.5:c.3641G>A	ENSP00000389119.1:p.Gly1214Glu
NM_000492.3:c.3731G>A , LRG_663t1:c.3731G>A	NP_000483.3:p.Gly1244Glu
XM_011515751.1:c.3821G>A	XP_011514053.1:p.Gly1274Glu
XM_011515752.1:c.3821G>A	XP_011514054.1:p.Gly1274Glu
XM_011515753.1:c.3488G>A	XP_011514055.1:p.Gly1163Glu
XM_011515754.1:c.3488G>A	XP_011514056.1:p.Gly1163Glu
NM_000492.4:c.3731G>A MANE Select	NP_000483.3:p.Gly1244Glu