Canonical Allele Identifier: CA275301
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53983
dbSNP Id: rs1800079

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