Canonical Allele Identifier: CA368984354

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117306962G>T (hg19) ; chr7:g.117666908G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666908G>T , CM000669.2:g.117666908G>T	GRCh38
NC_000007.13:g.117306962G>T , CM000669.1:g.117306962G>T	GRCh37
NC_000007.12:g.117094198G>T	NCBI36
NG_016465.4:g.206125G>T , LRG_663:g.206125G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*452G>T	ENSP00000497673.2:n.*452G>T
ENST00000647978.2:c.*3957G>T	ENSP00000497658.1:n.*3957G>T
ENST00000649781.2:c.4060G>T	ENSP00000497203.1:p.Val1354Phe
ENST00000685018.2:c.*456G>T	ENSP00000510194.2:n.*456G>T
ENST00000687278.2:c.*896-694G>T	ENSP00000509593.2:n.*896-694G>T
ENST00000699585.1:c.*712G>T	ENSP00000514456.1:n.*712G>T
ENST00000699598.1:c.4243-7G>T	ENSP00000514467.1:n.4243-7G>T
ENST00000699599.1:c.*456G>T	ENSP00000514468.1:n.*456G>T
ENST00000699600.1:c.*904-694G>T	ENSP00000514469.1:n.*904-694G>T
ENST00000699601.1:c.*2618G>T	ENSP00000514470.1:n.*2618G>T
ENST00000699602.1:c.4237G>T	ENSP00000514471.1:p.Val1413Phe
ENST00000699604.1:c.*4067G>T	ENSP00000514472.1:n.*4067G>T
ENST00000699605.1:c.3817G>T	ENSP00000514473.1:p.Val1273Phe
ENST00000699606.1:n.3754G>T
ENST00000685018.1:c.1107G>T	ENSP00000510194.1:n.1107G>T
ENST00000687278.1:c.2030-694G>T	ENSP00000509593.1:n.2030-694G>T
ENST00000689011.1:c.1085G>T
ENST00000003084.11:c.4243G>T MANE Select	ENSP00000003084.6:p.Val1415Phe
ENST00000647720.1:c.1693G>T
ENST00000649781.1:c.4060G>T	ENSP00000497203.1:p.Val1354Phe
ENST00000003084.10:c.4243G>T	ENSP00000003084.6:p.Val1415Phe
ENST00000426809.5:c.4153G>T	ENSP00000389119.1:p.Val1385Phe
ENST00000600166.1:c.368+1344G>T
NM_000492.3:c.4243G>T , LRG_663t1:c.4243G>T	NP_000483.3:p.Val1415Phe
XM_011515751.1:c.4333G>T	XP_011514053.1:p.Val1445Phe
XM_011515753.1:c.4000G>T	XP_011514055.1:p.Val1334Phe
XM_011515754.1:c.4000G>T	XP_011514056.1:p.Val1334Phe
NM_000492.4:c.4243G>T MANE Select	NP_000483.3:p.Val1415Phe