Canonical Allele Identifier: CA254112
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7164
dbSNP Id: rs11971167

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117642528G>A , CM000669.2:g.117642528G>A GRCh38
NC_000007.13:g.117282582G>A , CM000669.1:g.117282582G>A GRCh37
NC_000007.12:g.117069818G>A NCBI36
NG_016465.4:g.181745G>A , LRG_663:g.181745G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.*17G>A ENSP00000497673.2:n.*17G>A
ENST00000647978.2:c.*3522G>A ENSP00000497658.1:n.*3522G>A
ENST00000649781.2:c.3625G>A ENSP00000497203.1:p.Asp1209Asn
ENST00000685018.2:c.3808G>A ENSP00000510194.2:p.Asp1270Asn
ENST00000687278.2:c.*461G>A ENSP00000509593.2:n.*461G>A
ENST00000699585.1:c.*17G>A ENSP00000514456.1:n.*17G>A
ENST00000699598.1:c.3808G>A ENSP00000514467.1:p.Asp1270Asn
ENST00000699599.1:c.3808G>A ENSP00000514468.1:p.Asp1270Asn
ENST00000699600.1:c.*469G>A ENSP00000514469.1:n.*469G>A
ENST00000699601.1:c.*2183G>A ENSP00000514470.1:n.*2183G>A
ENST00000699602.1:c.3802G>A ENSP00000514471.1:p.Asp1268Asn
ENST00000699604.1:c.*3632G>A ENSP00000514472.1:n.*3632G>A
ENST00000699605.1:c.3382G>A ENSP00000514473.1:p.Asp1128Asn
ENST00000685018.1:c.556G>A ENSP00000510194.1:p.Asp186Asn
ENST00000687278.1:c.1595G>A ENSP00000509593.1:n.1595G>A
ENST00000689011.1:c.390G>A
ENST00000003084.11:c.3808G>A MANE Select ENSP00000003084.6:p.Asp1270Asn
ENST00000647720.1:c.1258G>A
ENST00000649781.1:c.3625G>A ENSP00000497203.1:p.Asp1209Asn
ENST00000003084.10:c.3808G>A ENSP00000003084.6:p.Asp1270Asn
ENST00000426809.5:c.3718G>A ENSP00000389119.1:p.Asp1240Asn
NM_000492.3:c.3808G>A , LRG_663t1:c.3808G>A NP_000483.3:p.Asp1270Asn
XM_011515751.1:c.3898G>A XP_011514053.1:p.Asp1300Asn
XM_011515752.1:c.3898G>A XP_011514054.1:p.Asp1300Asn
XM_011515753.1:c.3565G>A XP_011514055.1:p.Asp1189Asn
XM_011515754.1:c.3565G>A XP_011514056.1:p.Asp1189Asn
NM_000492.4:c.3808G>A MANE Select NP_000483.3:p.Asp1270Asn