Canonical Allele Identifier: CA242756
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53155
ClinVar RCV Id: RCV001409872
dbSNP Id: rs150914702
ExAC: 7:117307164 G / A
gnomAD v2: 7-117307164-G-A
gnomAD v3: 7-117667110-G-A
gnomAD v4: 7-117667110-G-A
MyVariant Identifiers: chr7:g.117307164G>A (hg19) chr7:g.117667110G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117667110G>A , CM000669.2:g.117667110G>A GRCh38
NC_000007.13:g.117307164G>A , CM000669.1:g.117307164G>A GRCh37
NC_000007.12:g.117094400G>A NCBI36
NG_016465.4:g.206327G>A , LRG_663:g.206327G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*654G>A ENSP00000497673.2:n.*654G>A
ENST00000647978.2:c.*4159G>A ENSP00000497658.1:n.*4159G>A
ENST00000649781.2:c.*2G>A ENSP00000497203.1:n.*2G>A
ENST00000685018.2:c.*658G>A ENSP00000510194.2:n.*658G>A
ENST00000687278.2:c.*896-492G>A ENSP00000509593.2:n.*896-492G>A
ENST00000699585.1:c.*914G>A ENSP00000514456.1:n.*914G>A
ENST00000699598.1:c.*151G>A ENSP00000514467.1:n.*151G>A
ENST00000699599.1:c.*658G>A ENSP00000514468.1:n.*658G>A
ENST00000699600.1:c.*904-492G>A ENSP00000514469.1:n.*904-492G>A
ENST00000699601.1:c.*2820G>A ENSP00000514470.1:n.*2820G>A
ENST00000699602.1:c.*2G>A ENSP00000514471.1:n.*2G>A
ENST00000699604.1:c.*4269G>A ENSP00000514472.1:n.*4269G>A
ENST00000699605.1:c.*2G>A ENSP00000514473.1:n.*2G>A
ENST00000699606.1:n.3956G>A
ENST00000685018.1:c.1309G>A ENSP00000510194.1:n.1309G>A
ENST00000687278.1:c.2030-492G>A ENSP00000509593.1:n.2030-492G>A
ENST00000689011.1:c.1287G>A
ENST00000003084.11:c.*2G>A MANE Select ENSP00000003084.6:n.*2G>A
ENST00000647720.1:c.1895G>A
ENST00000003084.10:c.*2G>A ENSP00000003084.6:n.*2G>A
ENST00000600166.1:c.368+1546G>A
NM_000492.3:c.*2G>A , LRG_663t1:c.*2G>A NP_000483.3:n.*2G>A
XM_011515751.1:c.*2G>A XP_011514053.1:n.*2G>A
XM_011515753.1:c.*2G>A XP_011514055.1:n.*2G>A
XM_011515754.1:c.*2G>A XP_011514056.1:n.*2G>A
NM_000492.4:c.*2G>A MANE Select NP_000483.3:n.*2G>A
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