Canonical Allele Identifier: CA325604

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652875A>C , CM000669.2:g.117652875A>C	GRCh38
NC_000007.13:g.117292929A>C , CM000669.1:g.117292929A>C	GRCh37
NC_000007.12:g.117080165A>C	NCBI36
NG_016465.4:g.192092A>C , LRG_663:g.192092A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3907A>C MANE Select	NP_000483.3:p.Asn1303His
ENST00000003084.11:c.3907A>C MANE Select	ENSP00000003084.6:p.Asn1303His
NM_000492.3:c.3907A>C , LRG_663t1:c.3907A>C	NP_000483.3:p.Asn1303His
ENST00000003084.10:c.3907A>C	ENSP00000003084.6:p.Asn1303His
ENST00000426809.5:c.3817A>C	ENSP00000389119.1:p.Asn1273His
ENST00000600166.1:c.33A>C
ENST00000647720.1:c.1357A>C
ENST00000647720.2:c.*116A>C	ENSP00000497673.2:n.*116A>C
ENST00000647978.2:c.*3621A>C	ENSP00000497658.1:n.*3621A>C
ENST00000649781.1:c.3724A>C	ENSP00000497203.1:p.Asn1242His
ENST00000649781.2:c.3724A>C	ENSP00000497203.1:p.Asn1242His
ENST00000685018.1:c.771A>C	ENSP00000510194.1:n.771A>C
ENST00000685018.2:c.*120A>C	ENSP00000510194.2:n.*120A>C
ENST00000687278.1:c.1694A>C	ENSP00000509593.1:n.1694A>C
ENST00000687278.2:c.*560A>C	ENSP00000509593.2:n.*560A>C
ENST00000689011.1:c.489A>C
ENST00000699585.1:c.*116A>C	ENSP00000514456.1:n.*116A>C
ENST00000699598.1:c.3907A>C	ENSP00000514467.1:p.Asn1303His
ENST00000699599.1:c.*120A>C	ENSP00000514468.1:n.*120A>C
ENST00000699600.1:c.*568A>C	ENSP00000514469.1:n.*568A>C
ENST00000699601.1:c.*2282A>C	ENSP00000514470.1:n.*2282A>C
ENST00000699602.1:c.3901A>C	ENSP00000514471.1:p.Asn1301His
ENST00000699604.1:c.*3731A>C	ENSP00000514472.1:n.*3731A>C
ENST00000699605.1:c.3481A>C	ENSP00000514473.1:p.Asn1161His
ENST00000699606.1:n.2075A>C
XM_011515751.1:c.3997A>C	XP_011514053.1:p.Asn1333His
XM_011515752.1:c.3997A>C	XP_011514054.1:p.Asn1333His
XM_011515753.1:c.3664A>C	XP_011514055.1:p.Asn1222His
XM_011515754.1:c.3664A>C	XP_011514056.1:p.Asn1222His