Canonical Allele Identifier: CA327473

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666941T>C , CM000669.2:g.117666941T>C	GRCh38
NC_000007.13:g.117306995T>C , CM000669.1:g.117306995T>C	GRCh37
NC_000007.12:g.117094231T>C	NCBI36
NG_016465.4:g.206158T>C , LRG_663:g.206158T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.4276T>C MANE Select	NP_000483.3:p.Ser1426Pro
ENST00000003084.11:c.4276T>C MANE Select	ENSP00000003084.6:p.Ser1426Pro
NM_000492.3:c.4276T>C , LRG_663t1:c.4276T>C	NP_000483.3:p.Ser1426Pro
ENST00000003084.10:c.4276T>C	ENSP00000003084.6:p.Ser1426Pro
ENST00000426809.5:c.4186T>C	ENSP00000389119.1:p.Ser1396Pro
ENST00000600166.1:c.368+1377T>C
ENST00000647720.1:c.1726T>C
ENST00000647720.2:c.*485T>C	ENSP00000497673.2:n.*485T>C
ENST00000647978.2:c.*3990T>C	ENSP00000497658.1:n.*3990T>C
ENST00000649781.1:c.4093T>C	ENSP00000497203.1:p.Ser1365Pro
ENST00000649781.2:c.4093T>C	ENSP00000497203.1:p.Ser1365Pro
ENST00000685018.1:c.1140T>C	ENSP00000510194.1:n.1140T>C
ENST00000685018.2:c.*489T>C	ENSP00000510194.2:n.*489T>C
ENST00000687278.1:c.2030-661T>C	ENSP00000509593.1:n.2030-661T>C
ENST00000687278.2:c.*896-661T>C	ENSP00000509593.2:n.*896-661T>C
ENST00000689011.1:c.1118T>C
ENST00000699585.1:c.*745T>C	ENSP00000514456.1:n.*745T>C
ENST00000699598.1:c.4269T>C	ENSP00000514467.1:p.Ile1423=
ENST00000699599.1:c.*489T>C	ENSP00000514468.1:n.*489T>C
ENST00000699600.1:c.*904-661T>C	ENSP00000514469.1:n.*904-661T>C
ENST00000699601.1:c.*2651T>C	ENSP00000514470.1:n.*2651T>C
ENST00000699602.1:c.4270T>C	ENSP00000514471.1:p.Ser1424Pro
ENST00000699604.1:c.*4100T>C	ENSP00000514472.1:n.*4100T>C
ENST00000699605.1:c.3850T>C	ENSP00000514473.1:p.Ser1284Pro
ENST00000699606.1:n.3787T>C
XM_011515751.1:c.4366T>C	XP_011514053.1:p.Ser1456Pro
XM_011515753.1:c.4033T>C	XP_011514055.1:p.Ser1345Pro
XM_011515754.1:c.4033T>C	XP_011514056.1:p.Ser1345Pro