Canonical Allele Identifier: CA164947572

Gene: CFTR

Linked Data

• dbSNP Id: rs200926076
• MyVariant Identifiers: chr7:g.117282543T>C (hg19) ; chr7:g.117642489T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642489T>C , CM000669.2:g.117642489T>C	GRCh38
NC_000007.13:g.117282543T>C , CM000669.1:g.117282543T>C	GRCh37
NC_000007.12:g.117069779T>C	NCBI36
NG_016465.4:g.181706T>C , LRG_663:g.181706T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3569T>C	ENSP00000497673.2:p.Phe1190Ser
ENST00000647978.2:c.*3483T>C	ENSP00000497658.1:n.*3483T>C
ENST00000649781.2:c.3586T>C	ENSP00000497203.1:p.Phe1196Leu
ENST00000685018.2:c.3769T>C	ENSP00000510194.2:p.Phe1257Leu
ENST00000687278.2:c.*422T>C	ENSP00000509593.2:n.*422T>C
ENST00000699585.1:c.3569T>C	ENSP00000514456.1:p.Phe1190Ser
ENST00000699598.1:c.3769T>C	ENSP00000514467.1:p.Phe1257Leu
ENST00000699599.1:c.3769T>C	ENSP00000514468.1:p.Phe1257Leu
ENST00000699600.1:c.*430T>C	ENSP00000514469.1:n.*430T>C
ENST00000699601.1:c.*2144T>C	ENSP00000514470.1:n.*2144T>C
ENST00000699602.1:c.3763T>C	ENSP00000514471.1:p.Phe1255Leu
ENST00000699604.1:c.*3593T>C	ENSP00000514472.1:n.*3593T>C
ENST00000699605.1:c.3343T>C	ENSP00000514473.1:p.Phe1115Leu
ENST00000685018.1:c.517T>C	ENSP00000510194.1:p.Phe173Leu
ENST00000687278.1:c.1556T>C	ENSP00000509593.1:n.1556T>C
ENST00000689011.1:c.351T>C
ENST00000003084.11:c.3769T>C MANE Select	ENSP00000003084.6:p.Phe1257Leu
ENST00000647720.1:c.1219T>C
ENST00000649781.1:c.3586T>C	ENSP00000497203.1:p.Phe1196Leu
ENST00000003084.10:c.3769T>C	ENSP00000003084.6:p.Phe1257Leu
ENST00000426809.5:c.3679T>C	ENSP00000389119.1:p.Phe1227Leu
NM_000492.3:c.3769T>C , LRG_663t1:c.3769T>C	NP_000483.3:p.Phe1257Leu
XM_011515751.1:c.3859T>C	XP_011514053.1:p.Phe1287Leu
XM_011515752.1:c.3859T>C	XP_011514054.1:p.Phe1287Leu
XM_011515753.1:c.3526T>C	XP_011514055.1:p.Phe1176Leu
XM_011515754.1:c.3526T>C	XP_011514056.1:p.Phe1176Leu
NM_000492.4:c.3769T>C MANE Select	NP_000483.3:p.Phe1257Leu