Canonical Allele Identifier: CA340637

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7123
• ClinVar RCV Id: RCV000007543 ; RCV000521321 ; RCV001004261 ; RCV001826429 ; RCV002476941 ; RCV003473010
• dbSNP Id: rs75549581
• ExAC: 7:117227883 G / A
• gnomAD v2: 7-117227883-G-A
• gnomAD v3: 7-117587829-G-A
• gnomAD v4: 7-117587829-G-A
• MyVariant Identifiers: chr7:g.117227883G>A (hg19) ; chr7:g.117587829G>A (hg38)
• PubMed: PMID:1695717 ; PMID:1712898 ; PMID:7506096 ; PMID:7668304 ; PMID:9150159 ; PMID:9950364 ; PMID:10653145 ; PMID:11388756 ; PMID:12815607 ; PMID:12865275 ; PMID:12938099 ; PMID:15025720 ; PMID:15371902 ; PMID:15371903 ; PMID:15858154 ; PMID:16963320 ; PMID:20932301 ; PMID:23670503 ; PMID:23891399 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117587829G>A , CM000669.2:g.117587829G>A	GRCh38
NC_000007.13:g.117227883G>A , CM000669.1:g.117227883G>A	GRCh37
NC_000007.12:g.117015119G>A	NCBI36
NG_016465.4:g.127046G>A , LRG_663:g.127046G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1675G>A	ENSP00000497673.2:p.Ala559Thr
ENST00000647978.2:c.*1389G>A	ENSP00000497658.1:n.*1389G>A
ENST00000649781.2:c.1492G>A	ENSP00000497203.1:p.Ala498Thr
ENST00000685018.2:c.1675G>A	ENSP00000510194.2:p.Ala559Thr
ENST00000687278.2:c.1675G>A	ENSP00000509593.2:p.Ala559Thr
ENST00000699585.1:c.1675G>A	ENSP00000514456.1:p.Ala559Thr
ENST00000699598.1:c.1675G>A	ENSP00000514467.1:p.Ala559Thr
ENST00000699599.1:c.1675G>A	ENSP00000514468.1:p.Ala559Thr
ENST00000699600.1:c.1675G>A	ENSP00000514469.1:p.Ala559Thr
ENST00000699601.1:c.1675G>A	ENSP00000514470.1:p.Ala559Thr
ENST00000699602.1:c.1675G>A	ENSP00000514471.1:p.Ala559Thr
ENST00000699604.1:c.*1499G>A	ENSP00000514472.1:n.*1499G>A
ENST00000699605.1:c.1249G>A	ENSP00000514473.1:p.Ala417Thr
ENST00000003084.11:c.1675G>A MANE Select	ENSP00000003084.6:p.Ala559Thr
ENST00000647978.1:c.*1389G>A	ENSP00000497658.1:n.*1389G>A
ENST00000648260.1:c.1402-14997G>A	ENSP00000497957.1:n.1402-14997G>A
ENST00000649406.1:c.1492G>A	ENSP00000497965.1:p.Ala498Thr
ENST00000649781.1:c.1492G>A	ENSP00000497203.1:p.Ala498Thr
ENST00000003084.10:c.1675G>A	ENSP00000003084.6:p.Ala559Thr
ENST00000426809.5:c.1585G>A	ENSP00000389119.1:p.Ala529Thr
NM_000492.3:c.1675G>A , LRG_663t1:c.1675G>A	NP_000483.3:p.Ala559Thr
XM_011515751.1:c.1765G>A	XP_011514053.1:p.Ala589Thr
XM_011515752.1:c.1765G>A	XP_011514054.1:p.Ala589Thr
XM_011515753.1:c.1432G>A	XP_011514055.1:p.Ala478Thr
XM_011515754.1:c.1432G>A	XP_011514056.1:p.Ala478Thr
NM_000492.4:c.1675G>A MANE Select	NP_000483.3:p.Ala559Thr