Canonical Allele Identifier: CA368984002

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117235074T>C (hg19) ; chr7:g.117595020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117595020T>C , CM000669.2:g.117595020T>C	GRCh38
NC_000007.13:g.117235074T>C , CM000669.1:g.117235074T>C	GRCh37
NC_000007.12:g.117022310T>C	NCBI36
NG_016465.4:g.134237T>C , LRG_663:g.134237T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2581T>C	ENSP00000497673.2:p.Phe861Leu
ENST00000647978.2:c.*2295T>C	ENSP00000497658.1:n.*2295T>C
ENST00000649781.2:c.2398T>C	ENSP00000497203.1:p.Phe800Leu
ENST00000685018.2:c.2581T>C	ENSP00000510194.2:p.Phe861Leu
ENST00000687278.2:c.2581T>C	ENSP00000509593.2:p.Phe861Leu
ENST00000699585.1:c.2581T>C	ENSP00000514456.1:p.Phe861Leu
ENST00000699598.1:c.2581T>C	ENSP00000514467.1:p.Phe861Leu
ENST00000699599.1:c.2581T>C	ENSP00000514468.1:p.Phe861Leu
ENST00000699600.1:c.2581T>C	ENSP00000514469.1:p.Phe861Leu
ENST00000699601.1:c.*881T>C	ENSP00000514470.1:n.*881T>C
ENST00000699602.1:c.2581T>C	ENSP00000514471.1:p.Phe861Leu
ENST00000699604.1:c.*2405T>C	ENSP00000514472.1:n.*2405T>C
ENST00000699605.1:c.2155T>C	ENSP00000514473.1:p.Phe719Leu
ENST00000687278.1:c.172T>C	ENSP00000509593.1:p.Phe58Leu
ENST00000003084.11:c.2581T>C MANE Select	ENSP00000003084.6:p.Phe861Leu
ENST00000647720.1:c.231T>C
ENST00000648260.1:c.1402-7806T>C	ENSP00000497957.1:n.1402-7806T>C
ENST00000649406.1:c.2398T>C	ENSP00000497965.1:p.Phe800Leu
ENST00000649781.1:c.2398T>C	ENSP00000497203.1:p.Phe800Leu
ENST00000003084.10:c.2581T>C	ENSP00000003084.6:p.Phe861Leu
ENST00000426809.5:c.2491T>C	ENSP00000389119.1:p.Phe831Leu
NM_000492.3:c.2581T>C , LRG_663t1:c.2581T>C	NP_000483.3:p.Phe861Leu
XM_011515751.1:c.2671T>C	XP_011514053.1:p.Phe891Leu
XM_011515752.1:c.2671T>C	XP_011514054.1:p.Phe891Leu
XM_011515753.1:c.2338T>C	XP_011514055.1:p.Phe780Leu
XM_011515754.1:c.2338T>C	XP_011514056.1:p.Phe780Leu
NM_000492.4:c.2581T>C MANE Select	NP_000483.3:p.Phe861Leu