Canonical Allele Identifier: CA368982541

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117304822T>G (hg19) ; chr7:g.117664768T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664768T>G , CM000669.2:g.117664768T>G	GRCh38
NC_000007.13:g.117304822T>G , CM000669.1:g.117304822T>G	GRCh37
NC_000007.12:g.117092058T>G	NCBI36
NG_016465.4:g.203985T>G , LRG_663:g.203985T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*253T>G	ENSP00000497673.2:n.*253T>G
ENST00000647978.2:c.*3758T>G	ENSP00000497658.1:n.*3758T>G
ENST00000649781.2:c.3861T>G	ENSP00000497203.1:p.His1287Gln
ENST00000685018.2:c.*257T>G	ENSP00000510194.2:n.*257T>G
ENST00000687278.2:c.*697T>G	ENSP00000509593.2:n.*697T>G
ENST00000699585.1:c.*253T>G	ENSP00000514456.1:n.*253T>G
ENST00000699598.1:c.4044T>G	ENSP00000514467.1:p.His1348Gln
ENST00000699599.1:c.*257T>G	ENSP00000514468.1:n.*257T>G
ENST00000699600.1:c.*705T>G	ENSP00000514469.1:n.*705T>G
ENST00000699601.1:c.*2419T>G	ENSP00000514470.1:n.*2419T>G
ENST00000699602.1:c.4038T>G	ENSP00000514471.1:p.His1346Gln
ENST00000699604.1:c.*3868T>G	ENSP00000514472.1:n.*3868T>G
ENST00000699605.1:c.3618T>G	ENSP00000514473.1:p.His1206Gln
ENST00000699606.1:n.2212T>G
ENST00000685018.1:c.908T>G	ENSP00000510194.1:n.908T>G
ENST00000687278.1:c.1831T>G	ENSP00000509593.1:n.1831T>G
ENST00000689011.1:c.626T>G
ENST00000003084.11:c.4044T>G MANE Select	ENSP00000003084.6:p.His1348Gln
ENST00000647720.1:c.1494T>G
ENST00000649781.1:c.3861T>G	ENSP00000497203.1:p.His1287Gln
ENST00000003084.10:c.4044T>G	ENSP00000003084.6:p.His1348Gln
ENST00000426809.5:c.3954T>G	ENSP00000389119.1:p.His1318Gln
ENST00000600166.1:c.170T>G
NM_000492.3:c.4044T>G , LRG_663t1:c.4044T>G	NP_000483.3:p.His1348Gln
XM_011515751.1:c.4134T>G	XP_011514053.1:p.His1378Gln
XM_011515752.1:c.4134T>G	XP_011514054.1:p.His1378Gln
XM_011515753.1:c.3801T>G	XP_011514055.1:p.His1267Gln
XM_011515754.1:c.3801T>G	XP_011514056.1:p.His1267Gln
NM_000492.4:c.4044T>G MANE Select	NP_000483.3:p.His1348Gln