Canonical Allele Identifier: CA457227864

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117243595T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603541T>C , CM000669.2:g.117603541T>C	GRCh38
NC_000007.13:g.117243595T>C , CM000669.1:g.117243595T>C	GRCh37
NC_000007.12:g.117030831T>C	NCBI36
NG_016465.4:g.142758T>C , LRG_663:g.142758T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2667T>C	ENSP00000497673.2:p.Leu889=
ENST00000647978.2:c.*2381T>C	ENSP00000497658.1:n.*2381T>C
ENST00000649781.2:c.2484T>C	ENSP00000497203.1:p.Leu828=
ENST00000685018.2:c.2667T>C	ENSP00000510194.2:p.Leu889=
ENST00000687278.2:c.2667T>C	ENSP00000509593.2:p.Leu889=
ENST00000699585.1:c.2667T>C	ENSP00000514456.1:p.Leu889=
ENST00000699598.1:c.2667T>C	ENSP00000514467.1:p.Leu889=
ENST00000699599.1:c.2667T>C	ENSP00000514468.1:p.Leu889=
ENST00000699600.1:c.2667T>C	ENSP00000514469.1:p.Leu889=
ENST00000699601.1:c.*967T>C	ENSP00000514470.1:n.*967T>C
ENST00000699602.1:c.2667T>C	ENSP00000514471.1:p.Leu889=
ENST00000699604.1:c.*2491T>C	ENSP00000514472.1:n.*2491T>C
ENST00000699605.1:c.2241T>C	ENSP00000514473.1:p.Leu747=
ENST00000687278.1:c.258T>C	ENSP00000509593.1:p.Leu86=
ENST00000003084.11:c.2667T>C MANE Select	ENSP00000003084.6:p.Leu889=
ENST00000647720.1:c.317T>C
ENST00000648260.1:c.1449T>C	ENSP00000497957.1:p.Leu483=
ENST00000649406.1:c.2484T>C	ENSP00000497965.1:p.Leu828=
ENST00000649781.1:c.2484T>C	ENSP00000497203.1:p.Leu828=
ENST00000003084.10:c.2667T>C	ENSP00000003084.6:p.Leu889=
ENST00000426809.5:c.2577T>C	ENSP00000389119.1:p.Leu859=
NM_000492.3:c.2667T>C , LRG_663t1:c.2667T>C	NP_000483.3:p.Leu889=
XM_011515751.1:c.2757T>C	XP_011514053.1:p.Leu919=
XM_011515752.1:c.2757T>C	XP_011514054.1:p.Leu919=
XM_011515753.1:c.2424T>C	XP_011514055.1:p.Leu808=
XM_011515754.1:c.2424T>C	XP_011514056.1:p.Leu808=
NM_000492.4:c.2667T>C MANE Select	NP_000483.3:p.Leu889=