Canonical Allele Identifier: CA368974546

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282525A>C (hg19) ; chr7:g.117642471A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642471A>C , CM000669.2:g.117642471A>C	GRCh38
NC_000007.13:g.117282525A>C , CM000669.1:g.117282525A>C	GRCh37
NC_000007.12:g.117069761A>C	NCBI36
NG_016465.4:g.181688A>C , LRG_663:g.181688A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3551A>C	ENSP00000497673.2:p.Glu1184Ala
ENST00000647978.2:c.*3465A>C	ENSP00000497658.1:n.*3465A>C
ENST00000649781.2:c.3568A>C	ENSP00000497203.1:p.Ser1190Arg
ENST00000685018.2:c.3751A>C	ENSP00000510194.2:p.Ser1251Arg
ENST00000687278.2:c.*404A>C	ENSP00000509593.2:n.*404A>C
ENST00000699585.1:c.3551A>C	ENSP00000514456.1:p.Glu1184Ala
ENST00000699598.1:c.3751A>C	ENSP00000514467.1:p.Ser1251Arg
ENST00000699599.1:c.3751A>C	ENSP00000514468.1:p.Ser1251Arg
ENST00000699600.1:c.*412A>C	ENSP00000514469.1:n.*412A>C
ENST00000699601.1:c.*2126A>C	ENSP00000514470.1:n.*2126A>C
ENST00000699602.1:c.3745A>C	ENSP00000514471.1:p.Ser1249Arg
ENST00000699604.1:c.*3575A>C	ENSP00000514472.1:n.*3575A>C
ENST00000699605.1:c.3325A>C	ENSP00000514473.1:p.Ser1109Arg
ENST00000685018.1:c.499A>C	ENSP00000510194.1:p.Ser167Arg
ENST00000687278.1:c.1538A>C	ENSP00000509593.1:n.1538A>C
ENST00000689011.1:c.333A>C
ENST00000003084.11:c.3751A>C MANE Select	ENSP00000003084.6:p.Ser1251Arg
ENST00000647720.1:c.1201A>C
ENST00000649781.1:c.3568A>C	ENSP00000497203.1:p.Ser1190Arg
ENST00000003084.10:c.3751A>C	ENSP00000003084.6:p.Ser1251Arg
ENST00000426809.5:c.3661A>C	ENSP00000389119.1:p.Ser1221Arg
NM_000492.3:c.3751A>C , LRG_663t1:c.3751A>C	NP_000483.3:p.Ser1251Arg
XM_011515751.1:c.3841A>C	XP_011514053.1:p.Ser1281Arg
XM_011515752.1:c.3841A>C	XP_011514054.1:p.Ser1281Arg
XM_011515753.1:c.3508A>C	XP_011514055.1:p.Ser1170Arg
XM_011515754.1:c.3508A>C	XP_011514056.1:p.Ser1170Arg
NM_000492.4:c.3751A>C MANE Select	NP_000483.3:p.Ser1251Arg