Canonical Allele Identifier: CA368975621

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282641A>G (hg19) ; chr7:g.117642587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642587A>G , CM000669.2:g.117642587A>G	GRCh38
NC_000007.13:g.117282641A>G , CM000669.1:g.117282641A>G	GRCh37
NC_000007.12:g.117069877A>G	NCBI36
NG_016465.4:g.181804A>G , LRG_663:g.181804A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*76A>G	ENSP00000497673.2:n.*76A>G
ENST00000647978.2:c.*3581A>G	ENSP00000497658.1:n.*3581A>G
ENST00000649781.2:c.3684A>G	ENSP00000497203.1:p.Ile1228Met
ENST00000685018.2:c.3867A>G	ENSP00000510194.2:p.Ile1289Met
ENST00000687278.2:c.*520A>G	ENSP00000509593.2:n.*520A>G
ENST00000699585.1:c.*76A>G	ENSP00000514456.1:n.*76A>G
ENST00000699598.1:c.3867A>G	ENSP00000514467.1:p.Ile1289Met
ENST00000699599.1:c.3867A>G	ENSP00000514468.1:p.Ile1289Met
ENST00000699600.1:c.*528A>G	ENSP00000514469.1:n.*528A>G
ENST00000699601.1:c.*2242A>G	ENSP00000514470.1:n.*2242A>G
ENST00000699602.1:c.3861A>G	ENSP00000514471.1:p.Ile1287Met
ENST00000699604.1:c.*3691A>G	ENSP00000514472.1:n.*3691A>G
ENST00000699605.1:c.3441A>G	ENSP00000514473.1:p.Ile1147Met
ENST00000685018.1:c.615A>G	ENSP00000510194.1:p.Ile205Met
ENST00000687278.1:c.1654A>G	ENSP00000509593.1:n.1654A>G
ENST00000689011.1:c.449A>G
ENST00000003084.11:c.3867A>G MANE Select	ENSP00000003084.6:p.Ile1289Met
ENST00000647720.1:c.1317A>G
ENST00000649781.1:c.3684A>G	ENSP00000497203.1:p.Ile1228Met
ENST00000003084.10:c.3867A>G	ENSP00000003084.6:p.Ile1289Met
ENST00000426809.5:c.3777A>G	ENSP00000389119.1:p.Ile1259Met
NM_000492.3:c.3867A>G , LRG_663t1:c.3867A>G	NP_000483.3:p.Ile1289Met
XM_011515751.1:c.3957A>G	XP_011514053.1:p.Ile1319Met
XM_011515752.1:c.3957A>G	XP_011514054.1:p.Ile1319Met
XM_011515753.1:c.3624A>G	XP_011514055.1:p.Ile1208Met
XM_011515754.1:c.3624A>G	XP_011514056.1:p.Ile1208Met
NM_000492.4:c.3867A>G MANE Select	NP_000483.3:p.Ile1289Met