Canonical Allele Identifier: CA368983724

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305589G>C (hg19) ; chr7:g.117665535G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665535G>C , CM000669.2:g.117665535G>C	GRCh38
NC_000007.13:g.117305589G>C , CM000669.1:g.117305589G>C	GRCh37
NC_000007.12:g.117092825G>C	NCBI36
NG_016465.4:g.204752G>C , LRG_663:g.204752G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*422G>C	ENSP00000497673.2:n.*422G>C
ENST00000647978.2:c.*3927G>C	ENSP00000497658.1:n.*3927G>C
ENST00000649781.2:c.4030G>C	ENSP00000497203.1:p.Glu1344Gln
ENST00000685018.2:c.*426G>C	ENSP00000510194.2:n.*426G>C
ENST00000687278.2:c.*866G>C	ENSP00000509593.2:n.*866G>C
ENST00000699585.1:c.*422G>C	ENSP00000514456.1:n.*422G>C
ENST00000699598.1:c.4213G>C	ENSP00000514467.1:p.Glu1405Gln
ENST00000699599.1:c.*426G>C	ENSP00000514468.1:n.*426G>C
ENST00000699600.1:c.*874G>C	ENSP00000514469.1:n.*874G>C
ENST00000699601.1:c.*2588G>C	ENSP00000514470.1:n.*2588G>C
ENST00000699602.1:c.4207G>C	ENSP00000514471.1:p.Glu1403Gln
ENST00000699604.1:c.*4037G>C	ENSP00000514472.1:n.*4037G>C
ENST00000699605.1:c.3787G>C	ENSP00000514473.1:p.Glu1263Gln
ENST00000699606.1:n.2381G>C
ENST00000685018.1:c.1077G>C	ENSP00000510194.1:n.1077G>C
ENST00000687278.1:c.2000G>C	ENSP00000509593.1:n.2000G>C
ENST00000689011.1:c.795G>C
ENST00000003084.11:c.4213G>C MANE Select	ENSP00000003084.6:p.Glu1405Gln
ENST00000647720.1:c.1663G>C
ENST00000649781.1:c.4030G>C	ENSP00000497203.1:p.Glu1344Gln
ENST00000003084.10:c.4213G>C	ENSP00000003084.6:p.Glu1405Gln
ENST00000426809.5:c.4123G>C	ENSP00000389119.1:p.Glu1375Gln
ENST00000600166.1:c.339G>C
NM_000492.3:c.4213G>C , LRG_663t1:c.4213G>C	NP_000483.3:p.Glu1405Gln
XM_011515751.1:c.4303G>C	XP_011514053.1:p.Glu1435Gln
XM_011515752.1:c.4303G>C	XP_011514054.1:p.Glu1435Gln
XM_011515753.1:c.3970G>C	XP_011514055.1:p.Glu1324Gln
XM_011515754.1:c.3970G>C	XP_011514056.1:p.Glu1324Gln
NM_000492.4:c.4213G>C MANE Select	NP_000483.3:p.Glu1405Gln