Canonical Allele Identifier: CA368974855

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282560C>A (hg19) ; chr7:g.117642506C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642506C>A , CM000669.2:g.117642506C>A	GRCh38
NC_000007.13:g.117282560C>A , CM000669.1:g.117282560C>A	GRCh37
NC_000007.12:g.117069796C>A	NCBI36
NG_016465.4:g.181723C>A , LRG_663:g.181723C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3586C>A	ENSP00000497673.2:p.His1196Asn
ENST00000647978.2:c.*3500C>A	ENSP00000497658.1:n.*3500C>A
ENST00000649781.2:c.3603C>A	ENSP00000497203.1:p.Asn1201Lys
ENST00000685018.2:c.3786C>A	ENSP00000510194.2:p.Asn1262Lys
ENST00000687278.2:c.*439C>A	ENSP00000509593.2:n.*439C>A
ENST00000699585.1:c.3586C>A	ENSP00000514456.1:p.His1196Asn
ENST00000699598.1:c.3786C>A	ENSP00000514467.1:p.Asn1262Lys
ENST00000699599.1:c.3786C>A	ENSP00000514468.1:p.Asn1262Lys
ENST00000699600.1:c.*447C>A	ENSP00000514469.1:n.*447C>A
ENST00000699601.1:c.*2161C>A	ENSP00000514470.1:n.*2161C>A
ENST00000699602.1:c.3780C>A	ENSP00000514471.1:p.Asn1260Lys
ENST00000699604.1:c.*3610C>A	ENSP00000514472.1:n.*3610C>A
ENST00000699605.1:c.3360C>A	ENSP00000514473.1:p.Asn1120Lys
ENST00000685018.1:c.534C>A	ENSP00000510194.1:p.Asn178Lys
ENST00000687278.1:c.1573C>A	ENSP00000509593.1:n.1573C>A
ENST00000689011.1:c.368C>A
ENST00000003084.11:c.3786C>A MANE Select	ENSP00000003084.6:p.Asn1262Lys
ENST00000647720.1:c.1236C>A
ENST00000649781.1:c.3603C>A	ENSP00000497203.1:p.Asn1201Lys
ENST00000003084.10:c.3786C>A	ENSP00000003084.6:p.Asn1262Lys
ENST00000426809.5:c.3696C>A	ENSP00000389119.1:p.Asn1232Lys
NM_000492.3:c.3786C>A , LRG_663t1:c.3786C>A	NP_000483.3:p.Asn1262Lys
XM_011515751.1:c.3876C>A	XP_011514053.1:p.Asn1292Lys
XM_011515752.1:c.3876C>A	XP_011514054.1:p.Asn1292Lys
XM_011515753.1:c.3543C>A	XP_011514055.1:p.Asn1181Lys
XM_011515754.1:c.3543C>A	XP_011514056.1:p.Asn1181Lys
NM_000492.4:c.3786C>A MANE Select	NP_000483.3:p.Asn1262Lys