Canonical Allele Identifier: CA368987490

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117243806C>A (hg19) ; chr7:g.117603752C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603752C>A , CM000669.2:g.117603752C>A	GRCh38
NC_000007.13:g.117243806C>A , CM000669.1:g.117243806C>A	GRCh37
NC_000007.12:g.117031042C>A	NCBI36
NG_016465.4:g.142969C>A , LRG_663:g.142969C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2878C>A	ENSP00000497673.2:p.Pro960Thr
ENST00000647978.2:c.*2592C>A	ENSP00000497658.1:n.*2592C>A
ENST00000649781.2:c.2695C>A	ENSP00000497203.1:p.Pro899Thr
ENST00000685018.2:c.2878C>A	ENSP00000510194.2:p.Pro960Thr
ENST00000687278.2:c.2878C>A	ENSP00000509593.2:p.Pro960Thr
ENST00000699585.1:c.2878C>A	ENSP00000514456.1:p.Pro960Thr
ENST00000699598.1:c.2878C>A	ENSP00000514467.1:p.Pro960Thr
ENST00000699599.1:c.2878C>A	ENSP00000514468.1:p.Pro960Thr
ENST00000699600.1:c.2878C>A	ENSP00000514469.1:p.Pro960Thr
ENST00000699601.1:c.*1178C>A	ENSP00000514470.1:n.*1178C>A
ENST00000699602.1:c.2878C>A	ENSP00000514471.1:p.Pro960Thr
ENST00000699604.1:c.*2702C>A	ENSP00000514472.1:n.*2702C>A
ENST00000699605.1:c.2452C>A	ENSP00000514473.1:p.Pro818Thr
ENST00000687278.1:c.469C>A	ENSP00000509593.1:p.Pro157Thr
ENST00000003084.11:c.2878C>A MANE Select	ENSP00000003084.6:p.Pro960Thr
ENST00000647720.1:c.528C>A
ENST00000648260.1:c.1660C>A	ENSP00000497957.1:p.Pro554Thr
ENST00000649406.1:c.2695C>A	ENSP00000497965.1:p.Pro899Thr
ENST00000649781.1:c.2695C>A	ENSP00000497203.1:p.Pro899Thr
ENST00000003084.10:c.2878C>A	ENSP00000003084.6:p.Pro960Thr
ENST00000426809.5:c.2788C>A	ENSP00000389119.1:p.Pro930Thr
NM_000492.3:c.2878C>A , LRG_663t1:c.2878C>A	NP_000483.3:p.Pro960Thr
XM_011515751.1:c.2968C>A	XP_011514053.1:p.Pro990Thr
XM_011515752.1:c.2968C>A	XP_011514054.1:p.Pro990Thr
XM_011515753.1:c.2635C>A	XP_011514055.1:p.Pro879Thr
XM_011515754.1:c.2635C>A	XP_011514056.1:p.Pro879Thr
NM_000492.4:c.2878C>A MANE Select	NP_000483.3:p.Pro960Thr