Canonical Allele Identifier: CA368986379

Gene: CFTR

Linked Data

• COSMIC: COSM4984613
• MyVariant Identifiers: chr7:g.117243590C>G (hg19) ; chr7:g.117603536C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603536C>G , CM000669.2:g.117603536C>G	GRCh38
NC_000007.13:g.117243590C>G , CM000669.1:g.117243590C>G	GRCh37
NC_000007.12:g.117030826C>G	NCBI36
NG_016465.4:g.142753C>G , LRG_663:g.142753C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2662C>G	ENSP00000497673.2:p.Pro888Ala
ENST00000647978.2:c.*2376C>G	ENSP00000497658.1:n.*2376C>G
ENST00000649781.2:c.2479C>G	ENSP00000497203.1:p.Pro827Ala
ENST00000685018.2:c.2662C>G	ENSP00000510194.2:p.Pro888Ala
ENST00000687278.2:c.2662C>G	ENSP00000509593.2:p.Pro888Ala
ENST00000699585.1:c.2662C>G	ENSP00000514456.1:p.Pro888Ala
ENST00000699598.1:c.2662C>G	ENSP00000514467.1:p.Pro888Ala
ENST00000699599.1:c.2662C>G	ENSP00000514468.1:p.Pro888Ala
ENST00000699600.1:c.2662C>G	ENSP00000514469.1:p.Pro888Ala
ENST00000699601.1:c.*962C>G	ENSP00000514470.1:n.*962C>G
ENST00000699602.1:c.2662C>G	ENSP00000514471.1:p.Pro888Ala
ENST00000699604.1:c.*2486C>G	ENSP00000514472.1:n.*2486C>G
ENST00000699605.1:c.2236C>G	ENSP00000514473.1:p.Pro746Ala
ENST00000687278.1:c.253C>G	ENSP00000509593.1:p.Pro85Ala
ENST00000003084.11:c.2662C>G MANE Select	ENSP00000003084.6:p.Pro888Ala
ENST00000647720.1:c.312C>G
ENST00000648260.1:c.1444C>G	ENSP00000497957.1:p.Pro482Ala
ENST00000649406.1:c.2479C>G	ENSP00000497965.1:p.Pro827Ala
ENST00000649781.1:c.2479C>G	ENSP00000497203.1:p.Pro827Ala
ENST00000003084.10:c.2662C>G	ENSP00000003084.6:p.Pro888Ala
ENST00000426809.5:c.2572C>G	ENSP00000389119.1:p.Pro858Ala
NM_000492.3:c.2662C>G , LRG_663t1:c.2662C>G	NP_000483.3:p.Pro888Ala
XM_011515751.1:c.2752C>G	XP_011514053.1:p.Pro918Ala
XM_011515752.1:c.2752C>G	XP_011514054.1:p.Pro918Ala
XM_011515753.1:c.2419C>G	XP_011514055.1:p.Pro807Ala
XM_011515754.1:c.2419C>G	XP_011514056.1:p.Pro807Ala
NM_000492.4:c.2662C>G MANE Select	NP_000483.3:p.Pro888Ala