Canonical Allele Identifier: CA368990650

Gene: CFTR

Linked Data

• COSMIC: COSM1726707
• MyVariant Identifiers: chr7:g.117250642G>A (hg19) ; chr7:g.117610588G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610588G>A , CM000669.2:g.117610588G>A	GRCh38
NC_000007.13:g.117250642G>A , CM000669.1:g.117250642G>A	GRCh37
NC_000007.12:g.117037878G>A	NCBI36
NG_016465.4:g.149805G>A , LRG_663:g.149805G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3058G>A	ENSP00000497673.2:p.Val1020Met
ENST00000647978.2:c.*2772G>A	ENSP00000497658.1:n.*2772G>A
ENST00000649781.2:c.2875G>A	ENSP00000497203.1:p.Val959Met
ENST00000685018.2:c.3058G>A	ENSP00000510194.2:p.Val1020Met
ENST00000687278.2:c.3058G>A	ENSP00000509593.2:p.Val1020Met
ENST00000699585.1:c.3058G>A	ENSP00000514456.1:p.Val1020Met
ENST00000699598.1:c.3058G>A	ENSP00000514467.1:p.Val1020Met
ENST00000699599.1:c.3058G>A	ENSP00000514468.1:p.Val1020Met
ENST00000699600.1:c.3058G>A	ENSP00000514469.1:p.Val1020Met
ENST00000699601.1:c.*1358G>A	ENSP00000514470.1:n.*1358G>A
ENST00000699602.1:c.3058G>A	ENSP00000514471.1:p.Val1020Met
ENST00000699604.1:c.*2882G>A	ENSP00000514472.1:n.*2882G>A
ENST00000699605.1:c.2632G>A	ENSP00000514473.1:p.Val878Met
ENST00000687278.1:c.649G>A	ENSP00000509593.1:p.Val217Met
ENST00000003084.11:c.3058G>A MANE Select	ENSP00000003084.6:p.Val1020Met
ENST00000647720.1:c.708G>A
ENST00000648260.1:c.1840G>A	ENSP00000497957.1:p.Val614Met
ENST00000649406.1:c.2875G>A	ENSP00000497965.1:p.Val959Met
ENST00000649781.1:c.2875G>A	ENSP00000497203.1:p.Val959Met
ENST00000003084.10:c.3058G>A	ENSP00000003084.6:p.Val1020Met
ENST00000426809.5:c.2968G>A	ENSP00000389119.1:p.Val990Met
NM_000492.3:c.3058G>A , LRG_663t1:c.3058G>A	NP_000483.3:p.Val1020Met
XM_011515751.1:c.3148G>A	XP_011514053.1:p.Val1050Met
XM_011515752.1:c.3148G>A	XP_011514054.1:p.Val1050Met
XM_011515753.1:c.2815G>A	XP_011514055.1:p.Val939Met
XM_011515754.1:c.2815G>A	XP_011514056.1:p.Val939Met
NM_000492.4:c.3058G>A MANE Select	NP_000483.3:p.Val1020Met