Canonical Allele Identifier: CA368996389

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267664A>G (hg19) ; chr7:g.117627610A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627610A>G , CM000669.2:g.117627610A>G	GRCh38
NC_000007.13:g.117267664A>G , CM000669.1:g.117267664A>G	GRCh37
NC_000007.12:g.117054900A>G	NCBI36
NG_016465.4:g.166827A>G , LRG_663:g.166827A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+40A>G	ENSP00000497673.2:n.3517+40A>G
ENST00000647978.2:c.*3271A>G	ENSP00000497658.1:n.*3271A>G
ENST00000649781.2:c.3374A>G	ENSP00000497203.1:p.Gln1125Arg
ENST00000685018.2:c.3557A>G	ENSP00000510194.2:p.Gln1186Arg
ENST00000687278.2:c.*210A>G	ENSP00000509593.2:n.*210A>G
ENST00000699585.1:c.3517+40A>G	ENSP00000514456.1:n.3517+40A>G
ENST00000699598.1:c.3557A>G	ENSP00000514467.1:p.Gln1186Arg
ENST00000699599.1:c.3557A>G	ENSP00000514468.1:p.Gln1186Arg
ENST00000699600.1:c.*218A>G	ENSP00000514469.1:n.*218A>G
ENST00000699601.1:c.*1932A>G	ENSP00000514470.1:n.*1932A>G
ENST00000699602.1:c.3551A>G	ENSP00000514471.1:p.Gln1184Arg
ENST00000699604.1:c.*3381A>G	ENSP00000514472.1:n.*3381A>G
ENST00000699605.1:c.3131A>G	ENSP00000514473.1:p.Gln1044Arg
ENST00000685018.1:c.305A>G	ENSP00000510194.1:p.Gln102Arg
ENST00000687278.1:c.1344A>G	ENSP00000509593.1:n.1344A>G
ENST00000689011.1:c.139A>G
ENST00000003084.11:c.3557A>G MANE Select	ENSP00000003084.6:p.Gln1186Arg
ENST00000647720.1:c.1167+40A>G
ENST00000648260.1:c.2339A>G	ENSP00000497957.1:p.Gln780Arg
ENST00000649406.1:c.3374A>G	ENSP00000497965.1:p.Gln1125Arg
ENST00000649781.1:c.3374A>G	ENSP00000497203.1:p.Gln1125Arg
ENST00000003084.10:c.3557A>G	ENSP00000003084.6:p.Gln1186Arg
ENST00000426809.5:c.3467A>G	ENSP00000389119.1:p.Gln1156Arg
ENST00000468795.1:c.382A>G
NM_000492.3:c.3557A>G , LRG_663t1:c.3557A>G	NP_000483.3:p.Gln1186Arg
XM_011515751.1:c.3647A>G	XP_011514053.1:p.Gln1216Arg
XM_011515752.1:c.3647A>G	XP_011514054.1:p.Gln1216Arg
XM_011515753.1:c.3314A>G	XP_011514055.1:p.Gln1105Arg
XM_011515754.1:c.3314A>G	XP_011514056.1:p.Gln1105Arg
NM_000492.4:c.3557A>G MANE Select	NP_000483.3:p.Gln1186Arg