Canonical Allele Identifier: CA275301

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53983
• ClinVar RCV Id: RCV000047174 ; RCV000178781 ; RCV000724146 ; RCV001802207 ; RCV003322594 ; RCV001009504 ; RCV003993779
• dbSNP Id: rs1800079
• ExAC: 7:117174349 G / A
• gnomAD v2: 7-117174349-G-A
• gnomAD v3: 7-117534295-G-A
• gnomAD v4: 7-117534295-G-A
• MyVariant Identifiers: chr7:g.117174349G>A (hg19) ; chr7:g.117534295G>A (hg38)
• PubMed: PMID:10746558 ; PMID:15536480 ; PMID:16189704 ; PMID:16193325 ; PMID:16244288 ; PMID:16251901 ; PMID:17329263 ; PMID:17448246 ; PMID:17662673 ; PMID:18685558 ; PMID:18716917 ; PMID:20021716 ; PMID:20059485 ; PMID:21388895 ; PMID:21520337 ; PMID:23276700 ; PMID:23420618 ; PMID:23891399 ; PMID:25033378 ; PMID:27214204

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117534295G>A , CM000669.2:g.117534295G>A	GRCh38
NC_000007.13:g.117174349G>A , CM000669.1:g.117174349G>A	GRCh37
NC_000007.12:g.116961585G>A	NCBI36
NG_016465.4:g.73512G>A , LRG_663:g.73512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.509G>A	ENSP00000497673.2:p.Arg170His
ENST00000647978.2:c.*406G>A	ENSP00000497658.1:n.*406G>A
ENST00000649781.2:c.509G>A	ENSP00000497203.1:p.Arg170His
ENST00000685018.2:c.509G>A	ENSP00000510194.2:p.Arg170His
ENST00000687278.2:c.509G>A	ENSP00000509593.2:p.Arg170His
ENST00000699585.1:c.509G>A	ENSP00000514456.1:p.Arg170His
ENST00000699596.1:c.509G>A	ENSP00000514465.1:p.Arg170His
ENST00000699597.1:c.509G>A	ENSP00000514466.1:p.Arg170His
ENST00000699598.1:c.509G>A	ENSP00000514467.1:p.Arg170His
ENST00000699599.1:c.509G>A	ENSP00000514468.1:p.Arg170His
ENST00000699600.1:c.509G>A	ENSP00000514469.1:p.Arg170His
ENST00000699601.1:c.509G>A	ENSP00000514470.1:p.Arg170His
ENST00000699602.1:c.509G>A	ENSP00000514471.1:p.Arg170His
ENST00000699604.1:c.*333G>A	ENSP00000514472.1:n.*333G>A
ENST00000699605.1:c.266G>A	ENSP00000514473.1:p.Arg89His
ENST00000003084.11:c.509G>A MANE Select	ENSP00000003084.6:p.Arg170His
ENST00000647978.1:c.*406G>A	ENSP00000497658.1:n.*406G>A
ENST00000648260.1:c.509G>A	ENSP00000497957.1:p.Arg170His
ENST00000649406.1:c.509G>A	ENSP00000497965.1:p.Arg170His
ENST00000649781.1:c.509G>A	ENSP00000497203.1:p.Arg170His
ENST00000673785.1:c.266G>A	ENSP00000501235.1:p.Arg89His
ENST00000003084.10:c.509G>A	ENSP00000003084.6:p.Arg170His
ENST00000426809.5:c.490-953G>A	ENSP00000389119.1:n.490-953G>A
NM_000492.3:c.509G>A , LRG_663t1:c.509G>A	NP_000483.3:p.Arg170His
XM_011515751.1:c.599G>A	XP_011514053.1:p.Arg200His
XM_011515752.1:c.599G>A	XP_011514054.1:p.Arg200His
XM_011515753.1:c.266G>A	XP_011514055.1:p.Arg89His
XM_011515754.1:c.266G>A	XP_011514056.1:p.Arg89His
NM_000492.4:c.509G>A MANE Select	NP_000483.3:p.Arg170His