Canonical Allele Identifier: CA1737398577
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627486T= , CM000669.2:g.117627486T= GRCh38
NC_000007.13:g.117267540T= , CM000669.1:g.117267540T= GRCh37
NC_000007.12:g.117054776T= NCBI36
NG_016465.4:g.166703T= , LRG_663:g.166703T=

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3469-36T= ENSP00000497673.2:n.3469-36T=
ENST00000647978.2:c.*3183-36T= ENSP00000497658.1:n.*3183-36T=
ENST00000649781.2:c.3286-36T= ENSP00000497203.1:n.3286-36T=
ENST00000685018.2:c.3469-36T= ENSP00000510194.2:n.3469-36T=
ENST00000687278.2:c.*122-36T= ENSP00000509593.2:n.*122-36T=
ENST00000699585.1:c.3469-36T= ENSP00000514456.1:n.3469-36T=
ENST00000699598.1:c.3469-36T= ENSP00000514467.1:n.3469-36T=
ENST00000699599.1:c.3469-36T= ENSP00000514468.1:n.3469-36T=
ENST00000699600.1:c.*130-36T= ENSP00000514469.1:n.*130-36T=
ENST00000699601.1:c.*1844-36T= ENSP00000514470.1:n.*1844-36T=
ENST00000699602.1:c.3463-36T= ENSP00000514471.1:n.3463-36T=
ENST00000699604.1:c.*3293-36T= ENSP00000514472.1:n.*3293-36T=
ENST00000699605.1:c.3043-36T= ENSP00000514473.1:n.3043-36T=
ENST00000685018.1:c.217-36T= ENSP00000510194.1:n.217-36T=
ENST00000687278.1:c.1256-36T= ENSP00000509593.1:n.1256-36T=
ENST00000689011.1:c.51-36T=
ENST00000003084.11:c.3469-36T= MANE Select ENSP00000003084.6:n.3469-36T=
ENST00000647720.1:c.1119-36T=
ENST00000648260.1:c.2251-36T= ENSP00000497957.1:n.2251-36T=
ENST00000649406.1:c.3286-36T= ENSP00000497965.1:n.3286-36T=
ENST00000649781.1:c.3286-36T= ENSP00000497203.1:n.3286-36T=
ENST00000003084.10:c.3469-36T= ENSP00000003084.6:n.3469-36T=
ENST00000426809.5:c.3379-36T= ENSP00000389119.1:n.3379-36T=
ENST00000468795.1:c.294-36T=
NM_000492.3:c.3469-36T= , LRG_663t1:c.3469-36T= NP_000483.3:n.3469-36T=
XM_011515751.1:c.3559-36T= XP_011514053.1:n.3559-36T=
XM_011515752.1:c.3559-36T= XP_011514054.1:n.3559-36T=
XM_011515753.1:c.3226-36T= XP_011514055.1:n.3226-36T=
XM_011515754.1:c.3226-36T= XP_011514056.1:n.3226-36T=
NM_000492.4:c.3469-36T= MANE Select NP_000483.3:n.3469-36T=