Canonical Allele Identifier: CA260235

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627611A>G , CM000669.2:g.117627611A>G	GRCh38
NC_000007.13:g.117267665A>G , CM000669.1:g.117267665A>G	GRCh37
NC_000007.12:g.117054901A>G	NCBI36
NG_016465.4:g.166828A>G , LRG_663:g.166828A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3558A>G MANE Select	NP_000483.3:p.Gln1186=
ENST00000003084.11:c.3558A>G MANE Select	ENSP00000003084.6:p.Gln1186=
NM_000492.3:c.3558A>G , LRG_663t1:c.3558A>G	NP_000483.3:p.Gln1186=
ENST00000003084.10:c.3558A>G	ENSP00000003084.6:p.Gln1186=
ENST00000426809.5:c.3468A>G	ENSP00000389119.1:p.Gln1156=
ENST00000468795.1:c.383A>G
ENST00000647720.1:c.1167+41A>G
ENST00000647720.2:c.3517+41A>G	ENSP00000497673.2:n.3517+41A>G
ENST00000647978.2:c.*3272A>G	ENSP00000497658.1:n.*3272A>G
ENST00000648260.1:c.2340A>G	ENSP00000497957.1:p.Gln780=
ENST00000649406.1:c.3375A>G	ENSP00000497965.1:p.Gln1125=
ENST00000649781.1:c.3375A>G	ENSP00000497203.1:p.Gln1125=
ENST00000649781.2:c.3375A>G	ENSP00000497203.1:p.Gln1125=
ENST00000685018.1:c.306A>G	ENSP00000510194.1:p.Gln102=
ENST00000685018.2:c.3558A>G	ENSP00000510194.2:p.Gln1186=
ENST00000687278.1:c.1345A>G	ENSP00000509593.1:n.1345A>G
ENST00000687278.2:c.*211A>G	ENSP00000509593.2:n.*211A>G
ENST00000689011.1:c.140A>G
ENST00000699585.1:c.3517+41A>G	ENSP00000514456.1:n.3517+41A>G
ENST00000699598.1:c.3558A>G	ENSP00000514467.1:p.Gln1186=
ENST00000699599.1:c.3558A>G	ENSP00000514468.1:p.Gln1186=
ENST00000699600.1:c.*219A>G	ENSP00000514469.1:n.*219A>G
ENST00000699601.1:c.*1933A>G	ENSP00000514470.1:n.*1933A>G
ENST00000699602.1:c.3552A>G	ENSP00000514471.1:p.Gln1184=
ENST00000699604.1:c.*3382A>G	ENSP00000514472.1:n.*3382A>G
ENST00000699605.1:c.3132A>G	ENSP00000514473.1:p.Gln1044=
XM_011515751.1:c.3648A>G	XP_011514053.1:p.Gln1216=
XM_011515752.1:c.3648A>G	XP_011514054.1:p.Gln1216=
XM_011515753.1:c.3315A>G	XP_011514055.1:p.Gln1105=
XM_011515754.1:c.3315A>G	XP_011514056.1:p.Gln1105=