Canonical Allele Identifier: CA368993583
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117614676A>T , CM000669.2:g.117614676A>T GRCh38
NC_000007.13:g.117254730A>T , CM000669.1:g.117254730A>T GRCh37
NC_000007.12:g.117041966A>T NCBI36
NG_016465.4:g.153893A>T , LRG_663:g.153893A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3431A>T ENSP00000497673.2:p.Gln1144Leu
ENST00000647978.2:c.*3145A>T ENSP00000497658.1:n.*3145A>T
ENST00000649781.2:c.3248A>T ENSP00000497203.1:p.Gln1083Leu
ENST00000685018.2:c.3431A>T ENSP00000510194.2:p.Gln1144Leu
ENST00000687278.2:c.3431A>T ENSP00000509593.2:p.Gln1144Leu
ENST00000699585.1:c.3431A>T ENSP00000514456.1:p.Gln1144Leu
ENST00000699598.1:c.3431A>T ENSP00000514467.1:p.Gln1144Leu
ENST00000699599.1:c.3431A>T ENSP00000514468.1:p.Gln1144Leu
ENST00000699600.1:c.3431A>T ENSP00000514469.1:p.Gln1144Leu
ENST00000699601.1:c.*1806A>T ENSP00000514470.1:n.*1806A>T
ENST00000699602.1:c.3425A>T ENSP00000514471.1:p.Gln1142Leu
ENST00000699604.1:c.*3255A>T ENSP00000514472.1:n.*3255A>T
ENST00000699605.1:c.3005A>T ENSP00000514473.1:p.Gln1002Leu
ENST00000685018.1:c.179A>T ENSP00000510194.1:p.Gln60Leu
ENST00000687278.1:c.1022A>T ENSP00000509593.1:p.Gln341Leu
ENST00000689011.1:c.13A>T
ENST00000003084.11:c.3431A>T MANE Select ENSP00000003084.6:p.Gln1144Leu
ENST00000647720.1:c.1081A>T
ENST00000648260.1:c.2213A>T ENSP00000497957.1:p.Gln738Leu
ENST00000649406.1:c.3248A>T ENSP00000497965.1:p.Gln1083Leu
ENST00000649781.1:c.3248A>T ENSP00000497203.1:p.Gln1083Leu
ENST00000003084.10:c.3431A>T ENSP00000003084.6:p.Gln1144Leu
ENST00000426809.5:c.3341A>T ENSP00000389119.1:p.Gln1114Leu
ENST00000468795.1:c.256A>T
NM_000492.3:c.3431A>T , LRG_663t1:c.3431A>T NP_000483.3:p.Gln1144Leu
XM_011515751.1:c.3521A>T XP_011514053.1:p.Gln1174Leu
XM_011515752.1:c.3521A>T XP_011514054.1:p.Gln1174Leu
XM_011515753.1:c.3188A>T XP_011514055.1:p.Gln1063Leu
XM_011515754.1:c.3188A>T XP_011514056.1:p.Gln1063Leu
NM_000492.4:c.3431A>T MANE Select NP_000483.3:p.Gln1144Leu