Canonical Allele Identifier: CA368989024

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117246752A>C (hg19) ; chr7:g.117606698A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606698A>C , CM000669.2:g.117606698A>C	GRCh38
NC_000007.13:g.117246752A>C , CM000669.1:g.117246752A>C	GRCh37
NC_000007.12:g.117033988A>C	NCBI36
NG_016465.4:g.145915A>C , LRG_663:g.145915A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2933A>C	ENSP00000497673.2:p.Lys978Thr
ENST00000647978.2:c.*2647A>C	ENSP00000497658.1:n.*2647A>C
ENST00000649781.2:c.2750A>C	ENSP00000497203.1:p.Lys917Thr
ENST00000685018.2:c.2933A>C	ENSP00000510194.2:p.Lys978Thr
ENST00000687278.2:c.2933A>C	ENSP00000509593.2:p.Lys978Thr
ENST00000699585.1:c.2933A>C	ENSP00000514456.1:p.Lys978Thr
ENST00000699598.1:c.2933A>C	ENSP00000514467.1:p.Lys978Thr
ENST00000699599.1:c.2933A>C	ENSP00000514468.1:p.Lys978Thr
ENST00000699600.1:c.2933A>C	ENSP00000514469.1:p.Lys978Thr
ENST00000699601.1:c.*1233A>C	ENSP00000514470.1:n.*1233A>C
ENST00000699602.1:c.2933A>C	ENSP00000514471.1:p.Lys978Thr
ENST00000699604.1:c.*2757A>C	ENSP00000514472.1:n.*2757A>C
ENST00000699605.1:c.2507A>C	ENSP00000514473.1:p.Lys836Thr
ENST00000687278.1:c.524A>C	ENSP00000509593.1:p.Lys175Thr
ENST00000003084.11:c.2933A>C MANE Select	ENSP00000003084.6:p.Lys978Thr
ENST00000647720.1:c.583A>C
ENST00000648260.1:c.1715A>C	ENSP00000497957.1:p.Lys572Thr
ENST00000649406.1:c.2750A>C	ENSP00000497965.1:p.Lys917Thr
ENST00000649781.1:c.2750A>C	ENSP00000497203.1:p.Lys917Thr
ENST00000003084.10:c.2933A>C	ENSP00000003084.6:p.Lys978Thr
ENST00000426809.5:c.2843A>C	ENSP00000389119.1:p.Lys948Thr
NM_000492.3:c.2933A>C , LRG_663t1:c.2933A>C	NP_000483.3:p.Lys978Thr
XM_011515751.1:c.3023A>C	XP_011514053.1:p.Lys1008Thr
XM_011515752.1:c.3023A>C	XP_011514054.1:p.Lys1008Thr
XM_011515753.1:c.2690A>C	XP_011514055.1:p.Lys897Thr
XM_011515754.1:c.2690A>C	XP_011514056.1:p.Lys897Thr
NM_000492.4:c.2933A>C MANE Select	NP_000483.3:p.Lys978Thr