Canonical Allele Identifier: CA368975073
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 634832
ClinVar RCV Id: RCV000785635
dbSNP Id: rs1562923253

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642526T>A , CM000669.2:g.117642526T>A GRCh38
NC_000007.13:g.117282580T>A , CM000669.1:g.117282580T>A GRCh37
NC_000007.12:g.117069816T>A NCBI36
NG_016465.4:g.181743T>A , LRG_663:g.181743T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*15T>A ENSP00000497673.2:n.*15T>A
ENST00000647978.2:c.*3520T>A ENSP00000497658.1:n.*3520T>A
ENST00000649781.2:c.3623T>A ENSP00000497203.1:p.Ile1208Asn
ENST00000685018.2:c.3806T>A ENSP00000510194.2:p.Ile1269Asn
ENST00000687278.2:c.*459T>A ENSP00000509593.2:n.*459T>A
ENST00000699585.1:c.*15T>A ENSP00000514456.1:n.*15T>A
ENST00000699598.1:c.3806T>A ENSP00000514467.1:p.Ile1269Asn
ENST00000699599.1:c.3806T>A ENSP00000514468.1:p.Ile1269Asn
ENST00000699600.1:c.*467T>A ENSP00000514469.1:n.*467T>A
ENST00000699601.1:c.*2181T>A ENSP00000514470.1:n.*2181T>A
ENST00000699602.1:c.3800T>A ENSP00000514471.1:p.Ile1267Asn
ENST00000699604.1:c.*3630T>A ENSP00000514472.1:n.*3630T>A
ENST00000699605.1:c.3380T>A ENSP00000514473.1:p.Ile1127Asn
ENST00000685018.1:c.554T>A ENSP00000510194.1:p.Ile185Asn
ENST00000687278.1:c.1593T>A ENSP00000509593.1:n.1593T>A
ENST00000689011.1:c.388T>A
ENST00000003084.11:c.3806T>A MANE Select ENSP00000003084.6:p.Ile1269Asn
ENST00000647720.1:c.1256T>A
ENST00000649781.1:c.3623T>A ENSP00000497203.1:p.Ile1208Asn
ENST00000003084.10:c.3806T>A ENSP00000003084.6:p.Ile1269Asn
ENST00000426809.5:c.3716T>A ENSP00000389119.1:p.Ile1239Asn
NM_000492.3:c.3806T>A , LRG_663t1:c.3806T>A NP_000483.3:p.Ile1269Asn
XM_011515751.1:c.3896T>A XP_011514053.1:p.Ile1299Asn
XM_011515752.1:c.3896T>A XP_011514054.1:p.Ile1299Asn
XM_011515753.1:c.3563T>A XP_011514055.1:p.Ile1188Asn
XM_011515754.1:c.3563T>A XP_011514056.1:p.Ile1188Asn
NM_000492.4:c.3806T>A MANE Select NP_000483.3:p.Ile1269Asn