Canonical Allele Identifier: CA327135

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611740A>C , CM000669.2:g.117611740A>C	GRCh38
NC_000007.13:g.117251794A>C , CM000669.1:g.117251794A>C	GRCh37
NC_000007.12:g.117039030A>C	NCBI36
NG_016465.4:g.150957A>C , LRG_663:g.150957A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3299A>C MANE Select	NP_000483.3:p.Gln1100Pro
ENST00000003084.11:c.3299A>C MANE Select	ENSP00000003084.6:p.Gln1100Pro
NM_000492.3:c.3299A>C , LRG_663t1:c.3299A>C	NP_000483.3:p.Gln1100Pro
ENST00000003084.10:c.3299A>C	ENSP00000003084.6:p.Gln1100Pro
ENST00000426809.5:c.3209A>C	ENSP00000389119.1:p.Gln1070Pro
ENST00000468795.1:c.124A>C
ENST00000647720.1:c.949A>C
ENST00000647720.2:c.3299A>C	ENSP00000497673.2:p.Gln1100Pro
ENST00000647978.2:c.*3013A>C	ENSP00000497658.1:n.*3013A>C
ENST00000648260.1:c.2081A>C	ENSP00000497957.1:p.Gln694Pro
ENST00000649406.1:c.3116A>C	ENSP00000497965.1:p.Gln1039Pro
ENST00000649781.1:c.3116A>C	ENSP00000497203.1:p.Gln1039Pro
ENST00000649781.2:c.3116A>C	ENSP00000497203.1:p.Gln1039Pro
ENST00000685018.1:c.47A>C	ENSP00000510194.1:p.Gln16Pro
ENST00000685018.2:c.3299A>C	ENSP00000510194.2:p.Gln1100Pro
ENST00000687278.1:c.890A>C	ENSP00000509593.1:p.Gln297Pro
ENST00000687278.2:c.3299A>C	ENSP00000509593.2:p.Gln1100Pro
ENST00000699585.1:c.3299A>C	ENSP00000514456.1:p.Gln1100Pro
ENST00000699598.1:c.3299A>C	ENSP00000514467.1:p.Gln1100Pro
ENST00000699599.1:c.3299A>C	ENSP00000514468.1:p.Gln1100Pro
ENST00000699600.1:c.3299A>C	ENSP00000514469.1:p.Gln1100Pro
ENST00000699601.1:c.*1599A>C	ENSP00000514470.1:n.*1599A>C
ENST00000699602.1:c.3299A>C	ENSP00000514471.1:p.Gln1100Pro
ENST00000699604.1:c.*3123A>C	ENSP00000514472.1:n.*3123A>C
ENST00000699605.1:c.2873A>C	ENSP00000514473.1:p.Gln958Pro
XM_011515751.1:c.3389A>C	XP_011514053.1:p.Gln1130Pro
XM_011515752.1:c.3389A>C	XP_011514054.1:p.Gln1130Pro
XM_011515753.1:c.3056A>C	XP_011514055.1:p.Gln1019Pro
XM_011515754.1:c.3056A>C	XP_011514056.1:p.Gln1019Pro