Canonical Allele Identifier: CA368996002

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627537C>G , CM000669.2:g.117627537C>G	GRCh38
NC_000007.13:g.117267591C>G , CM000669.1:g.117267591C>G	GRCh37
NC_000007.12:g.117054827C>G	NCBI36
NG_016465.4:g.166754C>G , LRG_663:g.166754C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3484C>G MANE Select	NP_000483.3:p.Arg1162Gly
ENST00000003084.11:c.3484C>G MANE Select	ENSP00000003084.6:p.Arg1162Gly
NM_000492.3:c.3484C>G , LRG_663t1:c.3484C>G	NP_000483.3:p.Arg1162Gly
ENST00000003084.10:c.3484C>G	ENSP00000003084.6:p.Arg1162Gly
ENST00000426809.5:c.3394C>G	ENSP00000389119.1:p.Arg1132Gly
ENST00000468795.1:c.309C>G
ENST00000647720.1:c.1134C>G
ENST00000647720.2:c.3484C>G	ENSP00000497673.2:p.Arg1162Gly
ENST00000647978.2:c.*3198C>G	ENSP00000497658.1:n.*3198C>G
ENST00000648260.1:c.2266C>G	ENSP00000497957.1:p.Arg756Gly
ENST00000649406.1:c.3301C>G	ENSP00000497965.1:p.Arg1101Gly
ENST00000649781.1:c.3301C>G	ENSP00000497203.1:p.Arg1101Gly
ENST00000649781.2:c.3301C>G	ENSP00000497203.1:p.Arg1101Gly
ENST00000685018.1:c.232C>G	ENSP00000510194.1:p.Arg78Gly
ENST00000685018.2:c.3484C>G	ENSP00000510194.2:p.Arg1162Gly
ENST00000687278.1:c.1271C>G	ENSP00000509593.1:n.1271C>G
ENST00000687278.2:c.*137C>G	ENSP00000509593.2:n.*137C>G
ENST00000689011.1:c.66C>G
ENST00000699585.1:c.3484C>G	ENSP00000514456.1:p.Arg1162Gly
ENST00000699598.1:c.3484C>G	ENSP00000514467.1:p.Arg1162Gly
ENST00000699599.1:c.3484C>G	ENSP00000514468.1:p.Arg1162Gly
ENST00000699600.1:c.*145C>G	ENSP00000514469.1:n.*145C>G
ENST00000699601.1:c.*1859C>G	ENSP00000514470.1:n.*1859C>G
ENST00000699602.1:c.3478C>G	ENSP00000514471.1:p.Arg1160Gly
ENST00000699604.1:c.*3308C>G	ENSP00000514472.1:n.*3308C>G
ENST00000699605.1:c.3058C>G	ENSP00000514473.1:p.Arg1020Gly
XM_011515751.1:c.3574C>G	XP_011514053.1:p.Arg1192Gly
XM_011515752.1:c.3574C>G	XP_011514054.1:p.Arg1192Gly
XM_011515753.1:c.3241C>G	XP_011514055.1:p.Arg1081Gly
XM_011515754.1:c.3241C>G	XP_011514056.1:p.Arg1081Gly