Canonical Allele Identifier: CA368984419

Gene: CFTR

Linked Data

• ClinVar Variation Id: 526020
• ClinVar RCV Id: RCV000630458 ; RCV001834986
• dbSNP Id: rs1461912555
• gnomAD v3: 7-117666921-A-T
• gnomAD v4: 7-117666921-A-T
• MyVariant Identifiers: chr7:g.117306975A>T (hg19) ; chr7:g.117666921A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666921A>T , CM000669.2:g.117666921A>T	GRCh38
NC_000007.13:g.117306975A>T , CM000669.1:g.117306975A>T	GRCh37
NC_000007.12:g.117094211A>T	NCBI36
NG_016465.4:g.206138A>T , LRG_663:g.206138A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*465A>T	ENSP00000497673.2:n.*465A>T
ENST00000647978.2:c.*3970A>T	ENSP00000497658.1:n.*3970A>T
ENST00000649781.2:c.4073A>T	ENSP00000497203.1:p.Asn1358Ile
ENST00000685018.2:c.*469A>T	ENSP00000510194.2:n.*469A>T
ENST00000687278.2:c.*896-681A>T	ENSP00000509593.2:n.*896-681A>T
ENST00000699585.1:c.*725A>T	ENSP00000514456.1:n.*725A>T
ENST00000699598.1:c.4249A>T	ENSP00000514467.1:p.Thr1417Ser
ENST00000699599.1:c.*469A>T	ENSP00000514468.1:n.*469A>T
ENST00000699600.1:c.*904-681A>T	ENSP00000514469.1:n.*904-681A>T
ENST00000699601.1:c.*2631A>T	ENSP00000514470.1:n.*2631A>T
ENST00000699602.1:c.4250A>T	ENSP00000514471.1:p.Asn1417Ile
ENST00000699604.1:c.*4080A>T	ENSP00000514472.1:n.*4080A>T
ENST00000699605.1:c.3830A>T	ENSP00000514473.1:p.Asn1277Ile
ENST00000699606.1:n.3767A>T
ENST00000685018.1:c.1120A>T	ENSP00000510194.1:n.1120A>T
ENST00000687278.1:c.2030-681A>T	ENSP00000509593.1:n.2030-681A>T
ENST00000689011.1:c.1098A>T
ENST00000003084.11:c.4256A>T MANE Select	ENSP00000003084.6:p.Asn1419Ile
ENST00000647720.1:c.1706A>T
ENST00000649781.1:c.4073A>T	ENSP00000497203.1:p.Asn1358Ile
ENST00000003084.10:c.4256A>T	ENSP00000003084.6:p.Asn1419Ile
ENST00000426809.5:c.4166A>T	ENSP00000389119.1:p.Asn1389Ile
ENST00000600166.1:c.368+1357A>T
NM_000492.3:c.4256A>T , LRG_663t1:c.4256A>T	NP_000483.3:p.Asn1419Ile
XM_011515751.1:c.4346A>T	XP_011514053.1:p.Asn1449Ile
XM_011515753.1:c.4013A>T	XP_011514055.1:p.Asn1338Ile
XM_011515754.1:c.4013A>T	XP_011514056.1:p.Asn1338Ile
NM_000492.4:c.4256A>T MANE Select	NP_000483.3:p.Asn1419Ile