Canonical Allele Identifier: CA4451560

Gene: CFTR

Linked Data

• ClinVar Variation Id: 633158
• ClinVar RCV Id: RCV000781241 ; RCV002360901
• dbSNP Id: rs397508619
• ExAC: 7:117282642 C / A
• gnomAD v2: 7-117282642-C-A
• gnomAD v3: 7-117642588-C-A
• gnomAD v4: 7-117642588-C-A
• MyVariant Identifiers: chr7:g.117282642C>A (hg19) ; chr7:g.117642588C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642588C>A , CM000669.2:g.117642588C>A	GRCh38
NC_000007.13:g.117282642C>A , CM000669.1:g.117282642C>A	GRCh37
NC_000007.12:g.117069878C>A	NCBI36
NG_016465.4:g.181805C>A , LRG_663:g.181805C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*77C>A	ENSP00000497673.2:n.*77C>A
ENST00000647978.2:c.*3582C>A	ENSP00000497658.1:n.*3582C>A
ENST00000649781.2:c.3685C>A	ENSP00000497203.1:p.Pro1229Thr
ENST00000685018.2:c.3868C>A	ENSP00000510194.2:p.Pro1290Thr
ENST00000687278.2:c.*521C>A	ENSP00000509593.2:n.*521C>A
ENST00000699585.1:c.*77C>A	ENSP00000514456.1:n.*77C>A
ENST00000699598.1:c.3868C>A	ENSP00000514467.1:p.Pro1290Thr
ENST00000699599.1:c.3868C>A	ENSP00000514468.1:p.Pro1290Thr
ENST00000699600.1:c.*529C>A	ENSP00000514469.1:n.*529C>A
ENST00000699601.1:c.*2243C>A	ENSP00000514470.1:n.*2243C>A
ENST00000699602.1:c.3862C>A	ENSP00000514471.1:p.Pro1288Thr
ENST00000699604.1:c.*3692C>A	ENSP00000514472.1:n.*3692C>A
ENST00000699605.1:c.3442C>A	ENSP00000514473.1:p.Pro1148Thr
ENST00000685018.1:c.616C>A	ENSP00000510194.1:p.Pro206Thr
ENST00000687278.1:c.1655C>A	ENSP00000509593.1:n.1655C>A
ENST00000689011.1:c.450C>A
ENST00000003084.11:c.3868C>A MANE Select	ENSP00000003084.6:p.Pro1290Thr
ENST00000647720.1:c.1318C>A
ENST00000649781.1:c.3685C>A	ENSP00000497203.1:p.Pro1229Thr
ENST00000003084.10:c.3868C>A	ENSP00000003084.6:p.Pro1290Thr
ENST00000426809.5:c.3778C>A	ENSP00000389119.1:p.Pro1260Thr
NM_000492.3:c.3868C>A , LRG_663t1:c.3868C>A	NP_000483.3:p.Pro1290Thr
XM_011515751.1:c.3958C>A	XP_011514053.1:p.Pro1320Thr
XM_011515752.1:c.3958C>A	XP_011514054.1:p.Pro1320Thr
XM_011515753.1:c.3625C>A	XP_011514055.1:p.Pro1209Thr
XM_011515754.1:c.3625C>A	XP_011514056.1:p.Pro1209Thr
NM_000492.4:c.3868C>A MANE Select	NP_000483.3:p.Pro1290Thr