Canonical Allele Identifier: CA457229343

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117250573T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610519T>C , CM000669.2:g.117610519T>C	GRCh38
NC_000007.13:g.117250573T>C , CM000669.1:g.117250573T>C	GRCh37
NC_000007.12:g.117037809T>C	NCBI36
NG_016465.4:g.149736T>C , LRG_663:g.149736T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2989T>C	ENSP00000497673.2:p.Leu997=
ENST00000647978.2:c.*2703T>C	ENSP00000497658.1:n.*2703T>C
ENST00000649781.2:c.2806T>C	ENSP00000497203.1:p.Leu936=
ENST00000685018.2:c.2989T>C	ENSP00000510194.2:p.Leu997=
ENST00000687278.2:c.2989T>C	ENSP00000509593.2:p.Leu997=
ENST00000699585.1:c.2989T>C	ENSP00000514456.1:p.Leu997=
ENST00000699598.1:c.2989T>C	ENSP00000514467.1:p.Leu997=
ENST00000699599.1:c.2989T>C	ENSP00000514468.1:p.Leu997=
ENST00000699600.1:c.2989T>C	ENSP00000514469.1:p.Leu997=
ENST00000699601.1:c.*1289T>C	ENSP00000514470.1:n.*1289T>C
ENST00000699602.1:c.2989T>C	ENSP00000514471.1:p.Leu997=
ENST00000699604.1:c.*2813T>C	ENSP00000514472.1:n.*2813T>C
ENST00000699605.1:c.2563T>C	ENSP00000514473.1:p.Leu855=
ENST00000687278.1:c.580T>C	ENSP00000509593.1:p.Leu194=
ENST00000003084.11:c.2989T>C MANE Select	ENSP00000003084.6:p.Leu997=
ENST00000647720.1:c.639T>C
ENST00000648260.1:c.1771T>C	ENSP00000497957.1:p.Leu591=
ENST00000649406.1:c.2806T>C	ENSP00000497965.1:p.Leu936=
ENST00000649781.1:c.2806T>C	ENSP00000497203.1:p.Leu936=
ENST00000003084.10:c.2989T>C	ENSP00000003084.6:p.Leu997=
ENST00000426809.5:c.2899T>C	ENSP00000389119.1:p.Leu967=
NM_000492.3:c.2989T>C , LRG_663t1:c.2989T>C	NP_000483.3:p.Leu997=
XM_011515751.1:c.3079T>C	XP_011514053.1:p.Leu1027=
XM_011515752.1:c.3079T>C	XP_011514054.1:p.Leu1027=
XM_011515753.1:c.2746T>C	XP_011514055.1:p.Leu916=
XM_011515754.1:c.2746T>C	XP_011514056.1:p.Leu916=
NM_000492.4:c.2989T>C MANE Select	NP_000483.3:p.Leu997=