Canonical Allele Identifier: CA152327

Gene: CFTR

Linked Data

• ClinVar Variation Id: 35839
• ClinVar RCV Id: RCV000029494 ; RCV000116686 ; RCV000119039 ; RCV000513754 ; RCV000582582 ; RCV001095213 ; RCV001249413
• dbSNP Id: rs1800076
• ExAC: 7:117149147 G / A
• gnomAD v2: 7-117149147-G-A
• gnomAD v3: 7-117509093-G-A
• gnomAD v4: 7-117509093-G-A
• MyVariant Identifiers: chr7:g.117149147G>A (hg19) ; chr7:g.117509093G>A (hg38)
• PubMed: PMID:1710599 ; PMID:7739684 ; PMID:9797105 ; PMID:10950058 ; PMID:15463907 ; PMID:16741161 ; PMID:16915933 ; PMID:20977904 ; PMID:21131649 ; PMID:22427236 ; PMID:22995991 ; PMID:23420618 ; PMID:23751316 ; PMID:23781395 ; PMID:23974870 ; PMID:24451227 ; PMID:24624459 ; PMID:25033378 ; PMID:25492507 ; PMID:25569187 ; PMID:25797027 ; PMID:25826586 ; PMID:26014425 ; PMID:26089335 ; PMID:26100556 ; PMID:26335950 ; PMID:26436105 ; PMID:26437683 ; PMID:27555793

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117509093G>A , CM000669.2:g.117509093G>A	GRCh38
NC_000007.13:g.117149147G>A , CM000669.1:g.117149147G>A	GRCh37
NC_000007.12:g.116936383G>A	NCBI36
NG_016465.4:g.48310G>A , LRG_663:g.48310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.224G>A	ENSP00000497673.2:p.Arg75Gln
ENST00000647978.2:c.*121G>A	ENSP00000497658.1:n.*121G>A
ENST00000649781.2:c.224G>A	ENSP00000497203.1:p.Arg75Gln
ENST00000649850.2:c.*121G>A	ENSP00000514457.1:n.*121G>A
ENST00000685018.2:c.224G>A	ENSP00000510194.2:p.Arg75Gln
ENST00000687278.2:c.224G>A	ENSP00000509593.2:p.Arg75Gln
ENST00000699585.1:c.224G>A	ENSP00000514456.1:p.Arg75Gln
ENST00000699596.1:c.224G>A	ENSP00000514465.1:p.Arg75Gln
ENST00000699597.1:c.224G>A	ENSP00000514466.1:p.Arg75Gln
ENST00000699598.1:c.224G>A	ENSP00000514467.1:p.Arg75Gln
ENST00000699599.1:c.224G>A	ENSP00000514468.1:p.Arg75Gln
ENST00000699600.1:c.224G>A	ENSP00000514469.1:p.Arg75Gln
ENST00000699601.1:c.224G>A	ENSP00000514470.1:p.Arg75Gln
ENST00000699602.1:c.224G>A	ENSP00000514471.1:p.Arg75Gln
ENST00000699604.1:c.*48G>A	ENSP00000514472.1:n.*48G>A
ENST00000699605.1:c.-20G>A	ENSP00000514473.1:n.-20G>A
ENST00000446805.2:c.-20G>A	ENSP00000417012.1:n.-20G>A
ENST00000003084.11:c.224G>A MANE Select	ENSP00000003084.6:p.Arg75Gln
ENST00000647639.1:n.308G>A
ENST00000647978.1:c.*121G>A	ENSP00000497658.1:n.*121G>A
ENST00000648260.1:c.224G>A	ENSP00000497957.1:p.Arg75Gln
ENST00000649406.1:c.224G>A	ENSP00000497965.1:p.Arg75Gln
ENST00000649781.1:c.224G>A	ENSP00000497203.1:p.Arg75Gln
ENST00000649850.1:n.381G>A
ENST00000673785.1:c.-20G>A	ENSP00000501235.1:n.-20G>A
ENST00000003084.10:c.224G>A	ENSP00000003084.6:p.Arg75Gln
ENST00000426809.5:c.224G>A	ENSP00000389119.1:p.Arg75Gln
ENST00000446805.1:c.-20G>A	ENSP00000417012.1:n.-20G>A
NM_000492.3:c.224G>A , LRG_663t1:c.224G>A	NP_000483.3:p.Arg75Gln
XM_011515751.1:c.314G>A	XP_011514053.1:p.Arg105Gln
XM_011515752.1:c.314G>A	XP_011514054.1:p.Arg105Gln
XM_011515753.1:c.-20G>A	XP_011514055.1:n.-20G>A
XM_011515754.1:c.-20G>A	XP_011514056.1:n.-20G>A
NM_000492.4:c.224G>A MANE Select	NP_000483.3:p.Arg75Gln