Canonical Allele Identifier: CA4451300

Gene: CFTR

Linked Data

• ClinVar Variation Id: 596906
• ClinVar RCV Id: RCV000732881 ; RCV001194371 ; RCV001220157
• dbSNP Id: rs151048781
• ExAC: 7:117243784 G / A
• gnomAD v2: 7-117243784-G-A
• gnomAD v4: 7-117603730-G-A
• MyVariant Identifiers: chr7:g.117243784G>A (hg19) ; chr7:g.117603730G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603730G>A , CM000669.2:g.117603730G>A	GRCh38
NC_000007.13:g.117243784G>A , CM000669.1:g.117243784G>A	GRCh37
NC_000007.12:g.117031020G>A	NCBI36
NG_016465.4:g.142947G>A , LRG_663:g.142947G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2856G>A	ENSP00000497673.2:p.Met952Ile
ENST00000647978.2:c.*2570G>A	ENSP00000497658.1:n.*2570G>A
ENST00000649781.2:c.2673G>A	ENSP00000497203.1:p.Met891Ile
ENST00000685018.2:c.2856G>A	ENSP00000510194.2:p.Met952Ile
ENST00000687278.2:c.2856G>A	ENSP00000509593.2:p.Met952Ile
ENST00000699585.1:c.2856G>A	ENSP00000514456.1:p.Met952Ile
ENST00000699598.1:c.2856G>A	ENSP00000514467.1:p.Met952Ile
ENST00000699599.1:c.2856G>A	ENSP00000514468.1:p.Met952Ile
ENST00000699600.1:c.2856G>A	ENSP00000514469.1:p.Met952Ile
ENST00000699601.1:c.*1156G>A	ENSP00000514470.1:n.*1156G>A
ENST00000699602.1:c.2856G>A	ENSP00000514471.1:p.Met952Ile
ENST00000699604.1:c.*2680G>A	ENSP00000514472.1:n.*2680G>A
ENST00000699605.1:c.2430G>A	ENSP00000514473.1:p.Met810Ile
ENST00000687278.1:c.447G>A	ENSP00000509593.1:p.Met149Ile
ENST00000003084.11:c.2856G>A MANE Select	ENSP00000003084.6:p.Met952Ile
ENST00000647720.1:c.506G>A
ENST00000648260.1:c.1638G>A	ENSP00000497957.1:p.Met546Ile
ENST00000649406.1:c.2673G>A	ENSP00000497965.1:p.Met891Ile
ENST00000649781.1:c.2673G>A	ENSP00000497203.1:p.Met891Ile
ENST00000003084.10:c.2856G>A	ENSP00000003084.6:p.Met952Ile
ENST00000426809.5:c.2766G>A	ENSP00000389119.1:p.Met922Ile
NM_000492.3:c.2856G>A , LRG_663t1:c.2856G>A	NP_000483.3:p.Met952Ile
XM_011515751.1:c.2946G>A	XP_011514053.1:p.Met982Ile
XM_011515752.1:c.2946G>A	XP_011514054.1:p.Met982Ile
XM_011515753.1:c.2613G>A	XP_011514055.1:p.Met871Ile
XM_011515754.1:c.2613G>A	XP_011514056.1:p.Met871Ile
NM_000492.4:c.2856G>A MANE Select	NP_000483.3:p.Met952Ile