Canonical Allele Identifier: CA368996319
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627593A>T , CM000669.2:g.117627593A>T GRCh38
NC_000007.13:g.117267647A>T , CM000669.1:g.117267647A>T GRCh37
NC_000007.12:g.117054883A>T NCBI36
NG_016465.4:g.166810A>T , LRG_663:g.166810A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3517+23A>T ENSP00000497673.2:n.3517+23A>T
ENST00000647978.2:c.*3254A>T ENSP00000497658.1:n.*3254A>T
ENST00000649781.2:c.3357A>T ENSP00000497203.1:p.Lys1119Asn
ENST00000685018.2:c.3540A>T ENSP00000510194.2:p.Lys1180Asn
ENST00000687278.2:c.*193A>T ENSP00000509593.2:n.*193A>T
ENST00000699585.1:c.3517+23A>T ENSP00000514456.1:n.3517+23A>T
ENST00000699598.1:c.3540A>T ENSP00000514467.1:p.Lys1180Asn
ENST00000699599.1:c.3540A>T ENSP00000514468.1:p.Lys1180Asn
ENST00000699600.1:c.*201A>T ENSP00000514469.1:n.*201A>T
ENST00000699601.1:c.*1915A>T ENSP00000514470.1:n.*1915A>T
ENST00000699602.1:c.3534A>T ENSP00000514471.1:p.Lys1178Asn
ENST00000699604.1:c.*3364A>T ENSP00000514472.1:n.*3364A>T
ENST00000699605.1:c.3114A>T ENSP00000514473.1:p.Lys1038Asn
ENST00000685018.1:c.288A>T ENSP00000510194.1:p.Lys96Asn
ENST00000687278.1:c.1327A>T ENSP00000509593.1:n.1327A>T
ENST00000689011.1:c.122A>T
ENST00000003084.11:c.3540A>T MANE Select ENSP00000003084.6:p.Lys1180Asn
ENST00000647720.1:c.1167+23A>T
ENST00000648260.1:c.2322A>T ENSP00000497957.1:p.Lys774Asn
ENST00000649406.1:c.3357A>T ENSP00000497965.1:p.Lys1119Asn
ENST00000649781.1:c.3357A>T ENSP00000497203.1:p.Lys1119Asn
ENST00000003084.10:c.3540A>T ENSP00000003084.6:p.Lys1180Asn
ENST00000426809.5:c.3450A>T ENSP00000389119.1:p.Lys1150Asn
ENST00000468795.1:c.365A>T
NM_000492.3:c.3540A>T , LRG_663t1:c.3540A>T NP_000483.3:p.Lys1180Asn
XM_011515751.1:c.3630A>T XP_011514053.1:p.Lys1210Asn
XM_011515752.1:c.3630A>T XP_011514054.1:p.Lys1210Asn
XM_011515753.1:c.3297A>T XP_011514055.1:p.Lys1099Asn
XM_011515754.1:c.3297A>T XP_011514056.1:p.Lys1099Asn
NM_000492.4:c.3540A>T MANE Select NP_000483.3:p.Lys1180Asn