Canonical Allele Identifier: CA4451520
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627771G>A , CM000669.2:g.117627771G>A GRCh38
NC_000007.13:g.117267825G>A , CM000669.1:g.117267825G>A GRCh37
NC_000007.12:g.117055061G>A NCBI36
NG_016465.4:g.166988G>A , LRG_663:g.166988G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.3517+201G>A ENSP00000497673.2:n.3517+201G>A
ENST00000647978.2:c.*3431+1G>A ENSP00000497658.1:n.*3431+1G>A
ENST00000649781.2:c.3534+1G>A ENSP00000497203.1:n.3534+1G>A
ENST00000685018.2:c.3717+1G>A ENSP00000510194.2:n.3717+1G>A
ENST00000687278.2:c.*370+1G>A ENSP00000509593.2:n.*370+1G>A
ENST00000699585.1:c.3517+201G>A ENSP00000514456.1:n.3517+201G>A
ENST00000699598.1:c.3717+1G>A ENSP00000514467.1:n.3717+1G>A
ENST00000699599.1:c.3717+1G>A ENSP00000514468.1:n.3717+1G>A
ENST00000699600.1:c.*378+1G>A ENSP00000514469.1:n.*378+1G>A
ENST00000699601.1:c.*2092+1G>A ENSP00000514470.1:n.*2092+1G>A
ENST00000699602.1:c.3711+1G>A ENSP00000514471.1:n.3711+1G>A
ENST00000699604.1:c.*3541+1G>A ENSP00000514472.1:n.*3541+1G>A
ENST00000699605.1:c.3291+1G>A ENSP00000514473.1:n.3291+1G>A
ENST00000685018.1:c.465+1G>A ENSP00000510194.1:n.465+1G>A
ENST00000687278.1:c.1504+1G>A ENSP00000509593.1:n.1504+1G>A
ENST00000689011.1:c.299+1G>A
ENST00000003084.11:c.3717+1G>A MANE Select ENSP00000003084.6:n.3717+1G>A
ENST00000647720.1:c.1167+201G>A
ENST00000648260.1:c.2500G>A ENSP00000497957.1:p.Val834Met
ENST00000649406.1:c.3535G>A ENSP00000497965.1:p.Val1179Met
ENST00000649781.1:c.3534+1G>A ENSP00000497203.1:n.3534+1G>A
ENST00000003084.10:c.3717+1G>A ENSP00000003084.6:n.3717+1G>A
ENST00000426809.5:c.3627+1G>A ENSP00000389119.1:n.3627+1G>A
ENST00000468795.1:c.543G>A
NM_000492.3:c.3717+1G>A , LRG_663t1:c.3717+1G>A NP_000483.3:n.3717+1G>A
XM_011515751.1:c.3807+1G>A XP_011514053.1:n.3807+1G>A
XM_011515752.1:c.3807+1G>A XP_011514054.1:n.3807+1G>A
XM_011515753.1:c.3474+1G>A XP_011514055.1:n.3474+1G>A
XM_011515754.1:c.3474+1G>A XP_011514056.1:n.3474+1G>A
NM_000492.4:c.3717+1G>A MANE Select NP_000483.3:n.3717+1G>A