Canonical Allele Identifier: CA457228085

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282542T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642488T>C , CM000669.2:g.117642488T>C	GRCh38
NC_000007.13:g.117282542T>C , CM000669.1:g.117282542T>C	GRCh37
NC_000007.12:g.117069778T>C	NCBI36
NG_016465.4:g.181705T>C , LRG_663:g.181705T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3568T>C	ENSP00000497673.2:p.Phe1190Leu
ENST00000647978.2:c.*3482T>C	ENSP00000497658.1:n.*3482T>C
ENST00000649781.2:c.3585T>C	ENSP00000497203.1:p.Ala1195=
ENST00000685018.2:c.3768T>C	ENSP00000510194.2:p.Ala1256=
ENST00000687278.2:c.*421T>C	ENSP00000509593.2:n.*421T>C
ENST00000699585.1:c.3568T>C	ENSP00000514456.1:p.Phe1190Leu
ENST00000699598.1:c.3768T>C	ENSP00000514467.1:p.Ala1256=
ENST00000699599.1:c.3768T>C	ENSP00000514468.1:p.Ala1256=
ENST00000699600.1:c.*429T>C	ENSP00000514469.1:n.*429T>C
ENST00000699601.1:c.*2143T>C	ENSP00000514470.1:n.*2143T>C
ENST00000699602.1:c.3762T>C	ENSP00000514471.1:p.Ala1254=
ENST00000699604.1:c.*3592T>C	ENSP00000514472.1:n.*3592T>C
ENST00000699605.1:c.3342T>C	ENSP00000514473.1:p.Ala1114=
ENST00000685018.1:c.516T>C	ENSP00000510194.1:p.Ala172=
ENST00000687278.1:c.1555T>C	ENSP00000509593.1:n.1555T>C
ENST00000689011.1:c.350T>C
ENST00000003084.11:c.3768T>C MANE Select	ENSP00000003084.6:p.Ala1256=
ENST00000647720.1:c.1218T>C
ENST00000649781.1:c.3585T>C	ENSP00000497203.1:p.Ala1195=
ENST00000003084.10:c.3768T>C	ENSP00000003084.6:p.Ala1256=
ENST00000426809.5:c.3678T>C	ENSP00000389119.1:p.Ala1226=
NM_000492.3:c.3768T>C , LRG_663t1:c.3768T>C	NP_000483.3:p.Ala1256=
XM_011515751.1:c.3858T>C	XP_011514053.1:p.Ala1286=
XM_011515752.1:c.3858T>C	XP_011514054.1:p.Ala1286=
XM_011515753.1:c.3525T>C	XP_011514055.1:p.Ala1175=
XM_011515754.1:c.3525T>C	XP_011514056.1:p.Ala1175=
NM_000492.4:c.3768T>C MANE Select	NP_000483.3:p.Ala1256=