Canonical Allele Identifier: CA368981699

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2897465
• ClinVar RCV Id: RCV003618888
• dbSNP Id: rs1793339292
• gnomAD v3: 7-117664689-T-A
• gnomAD v4: 7-117664689-T-A
• MyVariant Identifiers: chr7:g.117304743T>A (hg19) ; chr7:g.117664689T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664689T>A , CM000669.2:g.117664689T>A	GRCh38
NC_000007.13:g.117304743T>A , CM000669.1:g.117304743T>A	GRCh37
NC_000007.12:g.117091979T>A	NCBI36
NG_016465.4:g.203906T>A , LRG_663:g.203906T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*174T>A	ENSP00000497673.2:n.*174T>A
ENST00000647978.2:c.*3679T>A	ENSP00000497658.1:n.*3679T>A
ENST00000649781.2:c.3782T>A	ENSP00000497203.1:p.Val1261Asp
ENST00000685018.2:c.*178T>A	ENSP00000510194.2:n.*178T>A
ENST00000687278.2:c.*618T>A	ENSP00000509593.2:n.*618T>A
ENST00000699585.1:c.*174T>A	ENSP00000514456.1:n.*174T>A
ENST00000699598.1:c.3965T>A	ENSP00000514467.1:p.Val1322Asp
ENST00000699599.1:c.*178T>A	ENSP00000514468.1:n.*178T>A
ENST00000699600.1:c.*626T>A	ENSP00000514469.1:n.*626T>A
ENST00000699601.1:c.*2340T>A	ENSP00000514470.1:n.*2340T>A
ENST00000699602.1:c.3959T>A	ENSP00000514471.1:p.Val1320Asp
ENST00000699604.1:c.*3789T>A	ENSP00000514472.1:n.*3789T>A
ENST00000699605.1:c.3539T>A	ENSP00000514473.1:p.Val1180Asp
ENST00000699606.1:n.2133T>A
ENST00000685018.1:c.829T>A	ENSP00000510194.1:n.829T>A
ENST00000687278.1:c.1752T>A	ENSP00000509593.1:n.1752T>A
ENST00000689011.1:c.547T>A
ENST00000003084.11:c.3965T>A MANE Select	ENSP00000003084.6:p.Val1322Asp
ENST00000647720.1:c.1415T>A
ENST00000649781.1:c.3782T>A	ENSP00000497203.1:p.Val1261Asp
ENST00000003084.10:c.3965T>A	ENSP00000003084.6:p.Val1322Asp
ENST00000426809.5:c.3875T>A	ENSP00000389119.1:p.Val1292Asp
ENST00000600166.1:c.91T>A
NM_000492.3:c.3965T>A , LRG_663t1:c.3965T>A	NP_000483.3:p.Val1322Asp
XM_011515751.1:c.4055T>A	XP_011514053.1:p.Val1352Asp
XM_011515752.1:c.4055T>A	XP_011514054.1:p.Val1352Asp
XM_011515753.1:c.3722T>A	XP_011514055.1:p.Val1241Asp
XM_011515754.1:c.3722T>A	XP_011514056.1:p.Val1241Asp
NM_000492.4:c.3965T>A MANE Select	NP_000483.3:p.Val1322Asp