Canonical Allele Identifier: CA4451072
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 619674
ClinVar RCV Id: RCV000759033 RCV000803536
dbSNP Id: rs773569201
ExAC: 7:117230451 T / A
gnomAD v2: 7-117230451-T-A
gnomAD v3: 7-117590397-T-A
gnomAD v4: 7-117590397-T-A
MyVariant Identifiers: chr7:g.117230451T>A (hg19) chr7:g.117590397T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117590397T>A , CM000669.2:g.117590397T>A GRCh38
NC_000007.13:g.117230451T>A , CM000669.1:g.117230451T>A GRCh37
NC_000007.12:g.117017687T>A NCBI36
NG_016465.4:g.129614T>A , LRG_663:g.129614T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.1724T>A ENSP00000497673.2:p.Phe575Tyr
ENST00000647978.2:c.*1438T>A ENSP00000497658.1:n.*1438T>A
ENST00000649781.2:c.1541T>A ENSP00000497203.1:p.Phe514Tyr
ENST00000685018.2:c.1724T>A ENSP00000510194.2:p.Phe575Tyr
ENST00000687278.2:c.1724T>A ENSP00000509593.2:p.Phe575Tyr
ENST00000699585.1:c.1724T>A ENSP00000514456.1:p.Phe575Tyr
ENST00000699598.1:c.1724T>A ENSP00000514467.1:p.Phe575Tyr
ENST00000699599.1:c.1724T>A ENSP00000514468.1:p.Phe575Tyr
ENST00000699600.1:c.1724T>A ENSP00000514469.1:p.Phe575Tyr
ENST00000699601.1:c.*24T>A ENSP00000514470.1:n.*24T>A
ENST00000699602.1:c.1724T>A ENSP00000514471.1:p.Phe575Tyr
ENST00000699604.1:c.*1548T>A ENSP00000514472.1:n.*1548T>A
ENST00000699605.1:c.1298T>A ENSP00000514473.1:p.Phe433Tyr
ENST00000003084.11:c.1724T>A MANE Select ENSP00000003084.6:p.Phe575Tyr
ENST00000647978.1:c.*1438T>A ENSP00000497658.1:n.*1438T>A
ENST00000648260.1:c.1402-12429T>A ENSP00000497957.1:n.1402-12429T>A
ENST00000649406.1:c.1541T>A ENSP00000497965.1:p.Phe514Tyr
ENST00000649781.1:c.1541T>A ENSP00000497203.1:p.Phe514Tyr
ENST00000003084.10:c.1724T>A ENSP00000003084.6:p.Phe575Tyr
ENST00000426809.5:c.1634T>A ENSP00000389119.1:p.Phe545Tyr
NM_000492.3:c.1724T>A , LRG_663t1:c.1724T>A NP_000483.3:p.Phe575Tyr
XM_011515751.1:c.1814T>A XP_011514053.1:p.Phe605Tyr
XM_011515752.1:c.1814T>A XP_011514054.1:p.Phe605Tyr
XM_011515753.1:c.1481T>A XP_011514055.1:p.Phe494Tyr
XM_011515754.1:c.1481T>A XP_011514056.1:p.Phe494Tyr
NM_000492.4:c.1724T>A MANE Select NP_000483.3:p.Phe575Tyr
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