Canonical Allele Identifier: CA368982711

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304857T>C (hg19) ; chr7:g.117664803T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664803T>C , CM000669.2:g.117664803T>C	GRCh38
NC_000007.13:g.117304857T>C , CM000669.1:g.117304857T>C	GRCh37
NC_000007.12:g.117092093T>C	NCBI36
NG_016465.4:g.204020T>C , LRG_663:g.204020T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*288T>C	ENSP00000497673.2:n.*288T>C
ENST00000647978.2:c.*3793T>C	ENSP00000497658.1:n.*3793T>C
ENST00000649781.2:c.3896T>C	ENSP00000497203.1:p.Val1299Ala
ENST00000685018.2:c.*292T>C	ENSP00000510194.2:n.*292T>C
ENST00000687278.2:c.*732T>C	ENSP00000509593.2:n.*732T>C
ENST00000699585.1:c.*288T>C	ENSP00000514456.1:n.*288T>C
ENST00000699598.1:c.4079T>C	ENSP00000514467.1:p.Val1360Ala
ENST00000699599.1:c.*292T>C	ENSP00000514468.1:n.*292T>C
ENST00000699600.1:c.*740T>C	ENSP00000514469.1:n.*740T>C
ENST00000699601.1:c.*2454T>C	ENSP00000514470.1:n.*2454T>C
ENST00000699602.1:c.4073T>C	ENSP00000514471.1:p.Val1358Ala
ENST00000699604.1:c.*3903T>C	ENSP00000514472.1:n.*3903T>C
ENST00000699605.1:c.3653T>C	ENSP00000514473.1:p.Val1218Ala
ENST00000699606.1:n.2247T>C
ENST00000685018.1:c.943T>C	ENSP00000510194.1:n.943T>C
ENST00000687278.1:c.1866T>C	ENSP00000509593.1:n.1866T>C
ENST00000689011.1:c.661T>C
ENST00000003084.11:c.4079T>C MANE Select	ENSP00000003084.6:p.Val1360Ala
ENST00000647720.1:c.1529T>C
ENST00000649781.1:c.3896T>C	ENSP00000497203.1:p.Val1299Ala
ENST00000003084.10:c.4079T>C	ENSP00000003084.6:p.Val1360Ala
ENST00000426809.5:c.3989T>C	ENSP00000389119.1:p.Val1330Ala
ENST00000600166.1:c.205T>C
NM_000492.3:c.4079T>C , LRG_663t1:c.4079T>C	NP_000483.3:p.Val1360Ala
XM_011515751.1:c.4169T>C	XP_011514053.1:p.Val1390Ala
XM_011515752.1:c.4169T>C	XP_011514054.1:p.Val1390Ala
XM_011515753.1:c.3836T>C	XP_011514055.1:p.Val1279Ala
XM_011515754.1:c.3836T>C	XP_011514056.1:p.Val1279Ala
NM_000492.4:c.4079T>C MANE Select	NP_000483.3:p.Val1360Ala