Canonical Allele Identifier: CA457228161

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282560C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3586C>T	ENSP00000497673.2:p.His1196Tyr
ENST00000647978.2:c.*3500C>T	ENSP00000497658.1:n.*3500C>T
ENST00000649781.2:c.3603C>T	ENSP00000497203.1:p.Asn1201=
ENST00000685018.2:c.3786C>T	ENSP00000510194.2:p.Asn1262=
ENST00000687278.2:c.*439C>T	ENSP00000509593.2:n.*439C>T
ENST00000699585.1:c.3586C>T	ENSP00000514456.1:p.His1196Tyr
ENST00000699598.1:c.3786C>T	ENSP00000514467.1:p.Asn1262=
ENST00000699599.1:c.3786C>T	ENSP00000514468.1:p.Asn1262=
ENST00000699600.1:c.*447C>T	ENSP00000514469.1:n.*447C>T
ENST00000699601.1:c.*2161C>T	ENSP00000514470.1:n.*2161C>T
ENST00000699602.1:c.3780C>T	ENSP00000514471.1:p.Asn1260=
ENST00000699604.1:c.*3610C>T	ENSP00000514472.1:n.*3610C>T
ENST00000699605.1:c.3360C>T	ENSP00000514473.1:p.Asn1120=
ENST00000685018.1:c.534C>T	ENSP00000510194.1:p.Asn178=
ENST00000687278.1:c.1573C>T	ENSP00000509593.1:n.1573C>T
ENST00000689011.1:c.368C>T
ENST00000003084.11:c.3786C>T MANE Select	ENSP00000003084.6:p.Asn1262=
ENST00000647720.1:c.1236C>T
ENST00000649781.1:c.3603C>T	ENSP00000497203.1:p.Asn1201=
ENST00000003084.10:c.3786C>T	ENSP00000003084.6:p.Asn1262=
ENST00000426809.5:c.3696C>T	ENSP00000389119.1:p.Asn1232=
NM_000492.3:c.3786C>T , LRG_663t1:c.3786C>T	NP_000483.3:p.Asn1262=
XM_011515751.1:c.3876C>T	XP_011514053.1:p.Asn1292=
XM_011515752.1:c.3876C>T	XP_011514054.1:p.Asn1292=
XM_011515753.1:c.3543C>T	XP_011514055.1:p.Asn1181=
XM_011515754.1:c.3543C>T	XP_011514056.1:p.Asn1181=
NM_000492.4:c.3786C>T MANE Select	NP_000483.3:p.Asn1262=