Canonical Allele Identifier: CA368975614

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117282640T>C (hg19) ; chr7:g.117642586T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642586T>C , CM000669.2:g.117642586T>C	GRCh38
NC_000007.13:g.117282640T>C , CM000669.1:g.117282640T>C	GRCh37
NC_000007.12:g.117069876T>C	NCBI36
NG_016465.4:g.181803T>C , LRG_663:g.181803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*75T>C	ENSP00000497673.2:n.*75T>C
ENST00000647978.2:c.*3580T>C	ENSP00000497658.1:n.*3580T>C
ENST00000649781.2:c.3683T>C	ENSP00000497203.1:p.Ile1228Thr
ENST00000685018.2:c.3866T>C	ENSP00000510194.2:p.Ile1289Thr
ENST00000687278.2:c.*519T>C	ENSP00000509593.2:n.*519T>C
ENST00000699585.1:c.*75T>C	ENSP00000514456.1:n.*75T>C
ENST00000699598.1:c.3866T>C	ENSP00000514467.1:p.Ile1289Thr
ENST00000699599.1:c.3866T>C	ENSP00000514468.1:p.Ile1289Thr
ENST00000699600.1:c.*527T>C	ENSP00000514469.1:n.*527T>C
ENST00000699601.1:c.*2241T>C	ENSP00000514470.1:n.*2241T>C
ENST00000699602.1:c.3860T>C	ENSP00000514471.1:p.Ile1287Thr
ENST00000699604.1:c.*3690T>C	ENSP00000514472.1:n.*3690T>C
ENST00000699605.1:c.3440T>C	ENSP00000514473.1:p.Ile1147Thr
ENST00000685018.1:c.614T>C	ENSP00000510194.1:p.Ile205Thr
ENST00000687278.1:c.1653T>C	ENSP00000509593.1:n.1653T>C
ENST00000689011.1:c.448T>C
ENST00000003084.11:c.3866T>C MANE Select	ENSP00000003084.6:p.Ile1289Thr
ENST00000647720.1:c.1316T>C
ENST00000649781.1:c.3683T>C	ENSP00000497203.1:p.Ile1228Thr
ENST00000003084.10:c.3866T>C	ENSP00000003084.6:p.Ile1289Thr
ENST00000426809.5:c.3776T>C	ENSP00000389119.1:p.Ile1259Thr
NM_000492.3:c.3866T>C , LRG_663t1:c.3866T>C	NP_000483.3:p.Ile1289Thr
XM_011515751.1:c.3956T>C	XP_011514053.1:p.Ile1319Thr
XM_011515752.1:c.3956T>C	XP_011514054.1:p.Ile1319Thr
XM_011515753.1:c.3623T>C	XP_011514055.1:p.Ile1208Thr
XM_011515754.1:c.3623T>C	XP_011514056.1:p.Ile1208Thr
NM_000492.4:c.3866T>C MANE Select	NP_000483.3:p.Ile1289Thr