Canonical Allele Identifier: CA327412

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664848A>C , CM000669.2:g.117664848A>C	GRCh38
NC_000007.13:g.117304902A>C , CM000669.1:g.117304902A>C	GRCh37
NC_000007.12:g.117092138A>C	NCBI36
NG_016465.4:g.204065A>C , LRG_663:g.204065A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4124A>C MANE Select	NP_000483.3:p.His1375Pro
ENST00000003084.11:c.4124A>C MANE Select	ENSP00000003084.6:p.His1375Pro
NM_000492.3:c.4124A>C , LRG_663t1:c.4124A>C	NP_000483.3:p.His1375Pro
ENST00000003084.10:c.4124A>C	ENSP00000003084.6:p.His1375Pro
ENST00000426809.5:c.4034A>C	ENSP00000389119.1:p.His1345Pro
ENST00000600166.1:c.250A>C
ENST00000647720.1:c.1574A>C
ENST00000647720.2:c.*333A>C	ENSP00000497673.2:n.*333A>C
ENST00000647978.2:c.*3838A>C	ENSP00000497658.1:n.*3838A>C
ENST00000649781.1:c.3941A>C	ENSP00000497203.1:p.His1314Pro
ENST00000649781.2:c.3941A>C	ENSP00000497203.1:p.His1314Pro
ENST00000685018.1:c.988A>C	ENSP00000510194.1:n.988A>C
ENST00000685018.2:c.*337A>C	ENSP00000510194.2:n.*337A>C
ENST00000687278.1:c.1911A>C	ENSP00000509593.1:n.1911A>C
ENST00000687278.2:c.*777A>C	ENSP00000509593.2:n.*777A>C
ENST00000689011.1:c.706A>C
ENST00000699585.1:c.*333A>C	ENSP00000514456.1:n.*333A>C
ENST00000699598.1:c.4124A>C	ENSP00000514467.1:p.His1375Pro
ENST00000699599.1:c.*337A>C	ENSP00000514468.1:n.*337A>C
ENST00000699600.1:c.*785A>C	ENSP00000514469.1:n.*785A>C
ENST00000699601.1:c.*2499A>C	ENSP00000514470.1:n.*2499A>C
ENST00000699602.1:c.4118A>C	ENSP00000514471.1:p.His1373Pro
ENST00000699604.1:c.*3948A>C	ENSP00000514472.1:n.*3948A>C
ENST00000699605.1:c.3698A>C	ENSP00000514473.1:p.His1233Pro
ENST00000699606.1:n.2292A>C
XM_011515751.1:c.4214A>C	XP_011514053.1:p.His1405Pro
XM_011515752.1:c.4214A>C	XP_011514054.1:p.His1405Pro
XM_011515753.1:c.3881A>C	XP_011514055.1:p.His1294Pro
XM_011515754.1:c.3881A>C	XP_011514056.1:p.His1294Pro