Canonical Allele Identifier: CA368978117

Gene: CFTR

Linked Data

• gnomAD v4: 7-117652867-T-C
• MyVariant Identifiers: chr7:g.117292921T>C (hg19) ; chr7:g.117652867T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652867T>C , CM000669.2:g.117652867T>C	GRCh38
NC_000007.13:g.117292921T>C , CM000669.1:g.117292921T>C	GRCh37
NC_000007.12:g.117080157T>C	NCBI36
NG_016465.4:g.192084T>C , LRG_663:g.192084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*108T>C	ENSP00000497673.2:n.*108T>C
ENST00000647978.2:c.*3613T>C	ENSP00000497658.1:n.*3613T>C
ENST00000649781.2:c.3716T>C	ENSP00000497203.1:p.Phe1239Ser
ENST00000685018.2:c.*112T>C	ENSP00000510194.2:n.*112T>C
ENST00000687278.2:c.*552T>C	ENSP00000509593.2:n.*552T>C
ENST00000699585.1:c.*108T>C	ENSP00000514456.1:n.*108T>C
ENST00000699598.1:c.3899T>C	ENSP00000514467.1:p.Phe1300Ser
ENST00000699599.1:c.*112T>C	ENSP00000514468.1:n.*112T>C
ENST00000699600.1:c.*560T>C	ENSP00000514469.1:n.*560T>C
ENST00000699601.1:c.*2274T>C	ENSP00000514470.1:n.*2274T>C
ENST00000699602.1:c.3893T>C	ENSP00000514471.1:p.Phe1298Ser
ENST00000699604.1:c.*3723T>C	ENSP00000514472.1:n.*3723T>C
ENST00000699605.1:c.3473T>C	ENSP00000514473.1:p.Phe1158Ser
ENST00000699606.1:n.2067T>C
ENST00000685018.1:c.763T>C	ENSP00000510194.1:n.763T>C
ENST00000687278.1:c.1686T>C	ENSP00000509593.1:n.1686T>C
ENST00000689011.1:c.481T>C
ENST00000003084.11:c.3899T>C MANE Select	ENSP00000003084.6:p.Phe1300Ser
ENST00000647720.1:c.1349T>C
ENST00000649781.1:c.3716T>C	ENSP00000497203.1:p.Phe1239Ser
ENST00000003084.10:c.3899T>C	ENSP00000003084.6:p.Phe1300Ser
ENST00000426809.5:c.3809T>C	ENSP00000389119.1:p.Phe1270Ser
ENST00000600166.1:c.25T>C
NM_000492.3:c.3899T>C , LRG_663t1:c.3899T>C	NP_000483.3:p.Phe1300Ser
XM_011515751.1:c.3989T>C	XP_011514053.1:p.Phe1330Ser
XM_011515752.1:c.3989T>C	XP_011514054.1:p.Phe1330Ser
XM_011515753.1:c.3656T>C	XP_011514055.1:p.Phe1219Ser
XM_011515754.1:c.3656T>C	XP_011514056.1:p.Phe1219Ser
NM_000492.4:c.3899T>C MANE Select	NP_000483.3:p.Phe1300Ser