Canonical Allele Identifier: CA368982706

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304856G>C (hg19) ; chr7:g.117664802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664802G>C , CM000669.2:g.117664802G>C	GRCh38
NC_000007.13:g.117304856G>C , CM000669.1:g.117304856G>C	GRCh37
NC_000007.12:g.117092092G>C	NCBI36
NG_016465.4:g.204019G>C , LRG_663:g.204019G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*287G>C	ENSP00000497673.2:n.*287G>C
ENST00000647978.2:c.*3792G>C	ENSP00000497658.1:n.*3792G>C
ENST00000649781.2:c.3895G>C	ENSP00000497203.1:p.Val1299Leu
ENST00000685018.2:c.*291G>C	ENSP00000510194.2:n.*291G>C
ENST00000687278.2:c.*731G>C	ENSP00000509593.2:n.*731G>C
ENST00000699585.1:c.*287G>C	ENSP00000514456.1:n.*287G>C
ENST00000699598.1:c.4078G>C	ENSP00000514467.1:p.Val1360Leu
ENST00000699599.1:c.*291G>C	ENSP00000514468.1:n.*291G>C
ENST00000699600.1:c.*739G>C	ENSP00000514469.1:n.*739G>C
ENST00000699601.1:c.*2453G>C	ENSP00000514470.1:n.*2453G>C
ENST00000699602.1:c.4072G>C	ENSP00000514471.1:p.Val1358Leu
ENST00000699604.1:c.*3902G>C	ENSP00000514472.1:n.*3902G>C
ENST00000699605.1:c.3652G>C	ENSP00000514473.1:p.Val1218Leu
ENST00000699606.1:n.2246G>C
ENST00000685018.1:c.942G>C	ENSP00000510194.1:n.942G>C
ENST00000687278.1:c.1865G>C	ENSP00000509593.1:n.1865G>C
ENST00000689011.1:c.660G>C
ENST00000003084.11:c.4078G>C MANE Select	ENSP00000003084.6:p.Val1360Leu
ENST00000647720.1:c.1528G>C
ENST00000649781.1:c.3895G>C	ENSP00000497203.1:p.Val1299Leu
ENST00000003084.10:c.4078G>C	ENSP00000003084.6:p.Val1360Leu
ENST00000426809.5:c.3988G>C	ENSP00000389119.1:p.Val1330Leu
ENST00000600166.1:c.204G>C
NM_000492.3:c.4078G>C , LRG_663t1:c.4078G>C	NP_000483.3:p.Val1360Leu
XM_011515751.1:c.4168G>C	XP_011514053.1:p.Val1390Leu
XM_011515752.1:c.4168G>C	XP_011514054.1:p.Val1390Leu
XM_011515753.1:c.3835G>C	XP_011514055.1:p.Val1279Leu
XM_011515754.1:c.3835G>C	XP_011514056.1:p.Val1279Leu
NM_000492.4:c.4078G>C MANE Select	NP_000483.3:p.Val1360Leu