Canonical Allele Identifier: CA368974569

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2109356
• ClinVar RCV Id: RCV003038317
• MyVariant Identifiers: chr7:g.117282526G>C (hg19) ; chr7:g.117642472G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642472G>C , CM000669.2:g.117642472G>C	GRCh38
NC_000007.13:g.117282526G>C , CM000669.1:g.117282526G>C	GRCh37
NC_000007.12:g.117069762G>C	NCBI36
NG_016465.4:g.181689G>C , LRG_663:g.181689G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3552G>C	ENSP00000497673.2:p.Glu1184Asp
ENST00000647978.2:c.*3466G>C	ENSP00000497658.1:n.*3466G>C
ENST00000649781.2:c.3569G>C	ENSP00000497203.1:p.Ser1190Thr
ENST00000685018.2:c.3752G>C	ENSP00000510194.2:p.Ser1251Thr
ENST00000687278.2:c.*405G>C	ENSP00000509593.2:n.*405G>C
ENST00000699585.1:c.3552G>C	ENSP00000514456.1:p.Glu1184Asp
ENST00000699598.1:c.3752G>C	ENSP00000514467.1:p.Ser1251Thr
ENST00000699599.1:c.3752G>C	ENSP00000514468.1:p.Ser1251Thr
ENST00000699600.1:c.*413G>C	ENSP00000514469.1:n.*413G>C
ENST00000699601.1:c.*2127G>C	ENSP00000514470.1:n.*2127G>C
ENST00000699602.1:c.3746G>C	ENSP00000514471.1:p.Ser1249Thr
ENST00000699604.1:c.*3576G>C	ENSP00000514472.1:n.*3576G>C
ENST00000699605.1:c.3326G>C	ENSP00000514473.1:p.Ser1109Thr
ENST00000685018.1:c.500G>C	ENSP00000510194.1:p.Ser167Thr
ENST00000687278.1:c.1539G>C	ENSP00000509593.1:n.1539G>C
ENST00000689011.1:c.334G>C
ENST00000003084.11:c.3752G>C MANE Select	ENSP00000003084.6:p.Ser1251Thr
ENST00000647720.1:c.1202G>C
ENST00000649781.1:c.3569G>C	ENSP00000497203.1:p.Ser1190Thr
ENST00000003084.10:c.3752G>C	ENSP00000003084.6:p.Ser1251Thr
ENST00000426809.5:c.3662G>C	ENSP00000389119.1:p.Ser1221Thr
NM_000492.3:c.3752G>C , LRG_663t1:c.3752G>C	NP_000483.3:p.Ser1251Thr
XM_011515751.1:c.3842G>C	XP_011514053.1:p.Ser1281Thr
XM_011515752.1:c.3842G>C	XP_011514054.1:p.Ser1281Thr
XM_011515753.1:c.3509G>C	XP_011514055.1:p.Ser1170Thr
XM_011515754.1:c.3509G>C	XP_011514056.1:p.Ser1170Thr
NM_000492.4:c.3752G>C MANE Select	NP_000483.3:p.Ser1251Thr