Canonical Allele Identifier: CA325534
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 7138
ClinVar RCV Id: RCV000007558
dbSNP Id: rs387906362

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117627774A>G , CM000669.2:g.117627774A>G GRCh38
NC_000007.13:g.117267828A>G , CM000669.1:g.117267828A>G GRCh37
NC_000007.12:g.117055064A>G NCBI36
NG_016465.4:g.166991A>G , LRG_663:g.166991A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.3517+204A>G ENSP00000497673.2:n.3517+204A>G
ENST00000647978.2:c.*3431+4A>G ENSP00000497658.1:n.*3431+4A>G
ENST00000649781.2:c.3534+4A>G ENSP00000497203.1:n.3534+4A>G
ENST00000685018.2:c.3717+4A>G ENSP00000510194.2:n.3717+4A>G
ENST00000687278.2:c.*370+4A>G ENSP00000509593.2:n.*370+4A>G
ENST00000699585.1:c.3517+204A>G ENSP00000514456.1:n.3517+204A>G
ENST00000699598.1:c.3717+4A>G ENSP00000514467.1:n.3717+4A>G
ENST00000699599.1:c.3717+4A>G ENSP00000514468.1:n.3717+4A>G
ENST00000699600.1:c.*378+4A>G ENSP00000514469.1:n.*378+4A>G
ENST00000699601.1:c.*2092+4A>G ENSP00000514470.1:n.*2092+4A>G
ENST00000699602.1:c.3711+4A>G ENSP00000514471.1:n.3711+4A>G
ENST00000699604.1:c.*3541+4A>G ENSP00000514472.1:n.*3541+4A>G
ENST00000699605.1:c.3291+4A>G ENSP00000514473.1:n.3291+4A>G
ENST00000685018.1:c.465+4A>G ENSP00000510194.1:n.465+4A>G
ENST00000687278.1:c.1504+4A>G ENSP00000509593.1:n.1504+4A>G
ENST00000689011.1:c.299+4A>G
ENST00000003084.11:c.3717+4A>G MANE Select ENSP00000003084.6:n.3717+4A>G
ENST00000647720.1:c.1167+204A>G
ENST00000648260.1:c.2503A>G ENSP00000497957.1:p.Arg835Gly
ENST00000649406.1:c.3538A>G ENSP00000497965.1:p.Arg1180Gly
ENST00000649781.1:c.3534+4A>G ENSP00000497203.1:n.3534+4A>G
ENST00000003084.10:c.3717+4A>G ENSP00000003084.6:n.3717+4A>G
ENST00000426809.5:c.3627+4A>G ENSP00000389119.1:n.3627+4A>G
ENST00000468795.1:c.546A>G
NM_000492.3:c.3717+4A>G , LRG_663t1:c.3717+4A>G NP_000483.3:n.3717+4A>G
XM_011515751.1:c.3807+4A>G XP_011514053.1:n.3807+4A>G
XM_011515752.1:c.3807+4A>G XP_011514054.1:n.3807+4A>G
XM_011515753.1:c.3474+4A>G XP_011514055.1:n.3474+4A>G
XM_011515754.1:c.3474+4A>G XP_011514056.1:n.3474+4A>G
NM_000492.4:c.3717+4A>G MANE Select NP_000483.3:n.3717+4A>G