Canonical Allele Identifier: CA326696

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117591996T>C , CM000669.2:g.117591996T>C	GRCh38
NC_000007.13:g.117232050T>C , CM000669.1:g.117232050T>C	GRCh37
NC_000007.12:g.117019286T>C	NCBI36
NG_016465.4:g.131213T>C , LRG_663:g.131213T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.1829T>C MANE Select	NP_000483.3:p.Leu610Ser
ENST00000003084.11:c.1829T>C MANE Select	ENSP00000003084.6:p.Leu610Ser
NM_000492.3:c.1829T>C , LRG_663t1:c.1829T>C	NP_000483.3:p.Leu610Ser
ENST00000003084.10:c.1829T>C	ENSP00000003084.6:p.Leu610Ser
ENST00000426809.5:c.1739T>C	ENSP00000389119.1:p.Leu580Ser
ENST00000647720.2:c.1829T>C	ENSP00000497673.2:p.Leu610Ser
ENST00000647978.1:c.*1543T>C	ENSP00000497658.1:n.*1543T>C
ENST00000647978.2:c.*1543T>C	ENSP00000497658.1:n.*1543T>C
ENST00000648260.1:c.1402-10830T>C	ENSP00000497957.1:n.1402-10830T>C
ENST00000649406.1:c.1646T>C	ENSP00000497965.1:p.Leu549Ser
ENST00000649781.1:c.1646T>C	ENSP00000497203.1:p.Leu549Ser
ENST00000649781.2:c.1646T>C	ENSP00000497203.1:p.Leu549Ser
ENST00000685018.2:c.1829T>C	ENSP00000510194.2:p.Leu610Ser
ENST00000687278.2:c.1829T>C	ENSP00000509593.2:p.Leu610Ser
ENST00000699585.1:c.1829T>C	ENSP00000514456.1:p.Leu610Ser
ENST00000699598.1:c.1829T>C	ENSP00000514467.1:p.Leu610Ser
ENST00000699599.1:c.1829T>C	ENSP00000514468.1:p.Leu610Ser
ENST00000699600.1:c.1829T>C	ENSP00000514469.1:p.Leu610Ser
ENST00000699601.1:c.*129T>C	ENSP00000514470.1:n.*129T>C
ENST00000699602.1:c.1829T>C	ENSP00000514471.1:p.Leu610Ser
ENST00000699604.1:c.*1653T>C	ENSP00000514472.1:n.*1653T>C
ENST00000699605.1:c.1403T>C	ENSP00000514473.1:p.Leu468Ser
XM_011515751.1:c.1919T>C	XP_011514053.1:p.Leu640Ser
XM_011515752.1:c.1919T>C	XP_011514054.1:p.Leu640Ser
XM_011515753.1:c.1586T>C	XP_011514055.1:p.Leu529Ser
XM_011515754.1:c.1586T>C	XP_011514056.1:p.Leu529Ser