Canonical Allele Identifier: CA368984375

Gene: CFTR

Linked Data

• gnomAD v4: 7-117666912-T-C
• MyVariant Identifiers: chr7:g.117306966T>C (hg19) ; chr7:g.117666912T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666912T>C , CM000669.2:g.117666912T>C	GRCh38
NC_000007.13:g.117306966T>C , CM000669.1:g.117306966T>C	GRCh37
NC_000007.12:g.117094202T>C	NCBI36
NG_016465.4:g.206129T>C , LRG_663:g.206129T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*456T>C	ENSP00000497673.2:n.*456T>C
ENST00000647978.2:c.*3961T>C	ENSP00000497658.1:n.*3961T>C
ENST00000649781.2:c.4064T>C	ENSP00000497203.1:p.Ile1355Thr
ENST00000685018.2:c.*460T>C	ENSP00000510194.2:n.*460T>C
ENST00000687278.2:c.*896-690T>C	ENSP00000509593.2:n.*896-690T>C
ENST00000699585.1:c.*716T>C	ENSP00000514456.1:n.*716T>C
ENST00000699598.1:c.4243-3T>C	ENSP00000514467.1:n.4243-3T>C
ENST00000699599.1:c.*460T>C	ENSP00000514468.1:n.*460T>C
ENST00000699600.1:c.*904-690T>C	ENSP00000514469.1:n.*904-690T>C
ENST00000699601.1:c.*2622T>C	ENSP00000514470.1:n.*2622T>C
ENST00000699602.1:c.4241T>C	ENSP00000514471.1:p.Ile1414Thr
ENST00000699604.1:c.*4071T>C	ENSP00000514472.1:n.*4071T>C
ENST00000699605.1:c.3821T>C	ENSP00000514473.1:p.Ile1274Thr
ENST00000699606.1:n.3758T>C
ENST00000685018.1:c.1111T>C	ENSP00000510194.1:n.1111T>C
ENST00000687278.1:c.2030-690T>C	ENSP00000509593.1:n.2030-690T>C
ENST00000689011.1:c.1089T>C
ENST00000003084.11:c.4247T>C MANE Select	ENSP00000003084.6:p.Ile1416Thr
ENST00000647720.1:c.1697T>C
ENST00000649781.1:c.4064T>C	ENSP00000497203.1:p.Ile1355Thr
ENST00000003084.10:c.4247T>C	ENSP00000003084.6:p.Ile1416Thr
ENST00000426809.5:c.4157T>C	ENSP00000389119.1:p.Ile1386Thr
ENST00000600166.1:c.368+1348T>C
NM_000492.3:c.4247T>C , LRG_663t1:c.4247T>C	NP_000483.3:p.Ile1416Thr
XM_011515751.1:c.4337T>C	XP_011514053.1:p.Ile1446Thr
XM_011515753.1:c.4004T>C	XP_011514055.1:p.Ile1335Thr
XM_011515754.1:c.4004T>C	XP_011514056.1:p.Ile1335Thr
NM_000492.4:c.4247T>C MANE Select	NP_000483.3:p.Ile1416Thr