Canonical Allele Identifier: CA368975544

Gene: CFTR

Linked Data

• COSMIC: COSM4171638
• MyVariant Identifiers: chr7:g.117282630T>C (hg19) ; chr7:g.117642576T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642576T>C , CM000669.2:g.117642576T>C	GRCh38
NC_000007.13:g.117282630T>C , CM000669.1:g.117282630T>C	GRCh37
NC_000007.12:g.117069866T>C	NCBI36
NG_016465.4:g.181793T>C , LRG_663:g.181793T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*65T>C	ENSP00000497673.2:n.*65T>C
ENST00000647978.2:c.*3570T>C	ENSP00000497658.1:n.*3570T>C
ENST00000649781.2:c.3673T>C	ENSP00000497203.1:p.Phe1225Leu
ENST00000685018.2:c.3856T>C	ENSP00000510194.2:p.Phe1286Leu
ENST00000687278.2:c.*509T>C	ENSP00000509593.2:n.*509T>C
ENST00000699585.1:c.*65T>C	ENSP00000514456.1:n.*65T>C
ENST00000699598.1:c.3856T>C	ENSP00000514467.1:p.Phe1286Leu
ENST00000699599.1:c.3856T>C	ENSP00000514468.1:p.Phe1286Leu
ENST00000699600.1:c.*517T>C	ENSP00000514469.1:n.*517T>C
ENST00000699601.1:c.*2231T>C	ENSP00000514470.1:n.*2231T>C
ENST00000699602.1:c.3850T>C	ENSP00000514471.1:p.Phe1284Leu
ENST00000699604.1:c.*3680T>C	ENSP00000514472.1:n.*3680T>C
ENST00000699605.1:c.3430T>C	ENSP00000514473.1:p.Phe1144Leu
ENST00000685018.1:c.604T>C	ENSP00000510194.1:p.Phe202Leu
ENST00000687278.1:c.1643T>C	ENSP00000509593.1:n.1643T>C
ENST00000689011.1:c.438T>C
ENST00000003084.11:c.3856T>C MANE Select	ENSP00000003084.6:p.Phe1286Leu
ENST00000647720.1:c.1306T>C
ENST00000649781.1:c.3673T>C	ENSP00000497203.1:p.Phe1225Leu
ENST00000003084.10:c.3856T>C	ENSP00000003084.6:p.Phe1286Leu
ENST00000426809.5:c.3766T>C	ENSP00000389119.1:p.Phe1256Leu
NM_000492.3:c.3856T>C , LRG_663t1:c.3856T>C	NP_000483.3:p.Phe1286Leu
XM_011515751.1:c.3946T>C	XP_011514053.1:p.Phe1316Leu
XM_011515752.1:c.3946T>C	XP_011514054.1:p.Phe1316Leu
XM_011515753.1:c.3613T>C	XP_011514055.1:p.Phe1205Leu
XM_011515754.1:c.3613T>C	XP_011514056.1:p.Phe1205Leu
NM_000492.4:c.3856T>C MANE Select	NP_000483.3:p.Phe1286Leu