Canonical Allele Identifier: CA368984662

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117307014A>T (hg19) ; chr7:g.117666960A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666960A>T , CM000669.2:g.117666960A>T	GRCh38
NC_000007.13:g.117307014A>T , CM000669.1:g.117307014A>T	GRCh37
NC_000007.12:g.117094250A>T	NCBI36
NG_016465.4:g.206177A>T , LRG_663:g.206177A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*504A>T	ENSP00000497673.2:n.*504A>T
ENST00000647978.2:c.*4009A>T	ENSP00000497658.1:n.*4009A>T
ENST00000649781.2:c.4112A>T	ENSP00000497203.1:p.Asn1371Ile
ENST00000685018.2:c.*508A>T	ENSP00000510194.2:n.*508A>T
ENST00000687278.2:c.*896-642A>T	ENSP00000509593.2:n.*896-642A>T
ENST00000699585.1:c.*764A>T	ENSP00000514456.1:n.*764A>T
ENST00000699598.1:c.*1A>T	ENSP00000514467.1:n.*1A>T
ENST00000699599.1:c.*508A>T	ENSP00000514468.1:n.*508A>T
ENST00000699600.1:c.*904-642A>T	ENSP00000514469.1:n.*904-642A>T
ENST00000699601.1:c.*2670A>T	ENSP00000514470.1:n.*2670A>T
ENST00000699602.1:c.4289A>T	ENSP00000514471.1:p.Asn1430Ile
ENST00000699604.1:c.*4119A>T	ENSP00000514472.1:n.*4119A>T
ENST00000699605.1:c.3869A>T	ENSP00000514473.1:p.Asn1290Ile
ENST00000699606.1:n.3806A>T
ENST00000685018.1:c.1159A>T	ENSP00000510194.1:n.1159A>T
ENST00000687278.1:c.2030-642A>T	ENSP00000509593.1:n.2030-642A>T
ENST00000689011.1:c.1137A>T
ENST00000003084.11:c.4295A>T MANE Select	ENSP00000003084.6:p.Asn1432Ile
ENST00000647720.1:c.1745A>T
ENST00000649781.1:c.4112A>T	ENSP00000497203.1:p.Asn1371Ile
ENST00000003084.10:c.4295A>T	ENSP00000003084.6:p.Asn1432Ile
ENST00000426809.5:c.4205A>T	ENSP00000389119.1:p.Asn1402Ile
ENST00000600166.1:c.368+1396A>T
NM_000492.3:c.4295A>T , LRG_663t1:c.4295A>T	NP_000483.3:p.Asn1432Ile
XM_011515751.1:c.4385A>T	XP_011514053.1:p.Asn1462Ile
XM_011515753.1:c.4052A>T	XP_011514055.1:p.Asn1351Ile
XM_011515754.1:c.4052A>T	XP_011514056.1:p.Asn1351Ile
NM_000492.4:c.4295A>T MANE Select	NP_000483.3:p.Asn1432Ile