Canonical Allele Identifier: CA4451324

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2624950
• ClinVar RCV Id: RCV003377629
• dbSNP Id: rs375947138
• ExAC: 7:117246717 G / A
• gnomAD v2: 7-117246717-G-A
• gnomAD v3: 7-117606663-G-A
• gnomAD v4: 7-117606663-G-A
• MyVariant Identifiers: chr7:g.117246717G>A (hg19) ; chr7:g.117606663G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606663G>A , CM000669.2:g.117606663G>A	GRCh38
NC_000007.13:g.117246717G>A , CM000669.1:g.117246717G>A	GRCh37
NC_000007.12:g.117033953G>A	NCBI36
NG_016465.4:g.145880G>A , LRG_663:g.145880G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2909-11G>A	ENSP00000497673.2:n.2909-11G>A
ENST00000647978.2:c.*2623-11G>A	ENSP00000497658.1:n.*2623-11G>A
ENST00000649781.2:c.2726-11G>A	ENSP00000497203.1:n.2726-11G>A
ENST00000685018.2:c.2909-11G>A	ENSP00000510194.2:n.2909-11G>A
ENST00000687278.2:c.2909-11G>A	ENSP00000509593.2:n.2909-11G>A
ENST00000699585.1:c.2909-11G>A	ENSP00000514456.1:n.2909-11G>A
ENST00000699598.1:c.2909-11G>A	ENSP00000514467.1:n.2909-11G>A
ENST00000699599.1:c.2909-11G>A	ENSP00000514468.1:n.2909-11G>A
ENST00000699600.1:c.2909-11G>A	ENSP00000514469.1:n.2909-11G>A
ENST00000699601.1:c.*1209-11G>A	ENSP00000514470.1:n.*1209-11G>A
ENST00000699602.1:c.2909-11G>A	ENSP00000514471.1:n.2909-11G>A
ENST00000699604.1:c.*2733-11G>A	ENSP00000514472.1:n.*2733-11G>A
ENST00000699605.1:c.2483-11G>A	ENSP00000514473.1:n.2483-11G>A
ENST00000687278.1:c.500-11G>A	ENSP00000509593.1:n.500-11G>A
ENST00000003084.11:c.2909-11G>A MANE Select	ENSP00000003084.6:n.2909-11G>A
ENST00000647720.1:c.559-11G>A
ENST00000648260.1:c.1691-11G>A	ENSP00000497957.1:n.1691-11G>A
ENST00000649406.1:c.2726-11G>A	ENSP00000497965.1:n.2726-11G>A
ENST00000649781.1:c.2726-11G>A	ENSP00000497203.1:n.2726-11G>A
ENST00000003084.10:c.2909-11G>A	ENSP00000003084.6:n.2909-11G>A
ENST00000426809.5:c.2819-11G>A	ENSP00000389119.1:n.2819-11G>A
NM_000492.3:c.2909-11G>A , LRG_663t1:c.2909-11G>A	NP_000483.3:n.2909-11G>A
XM_011515751.1:c.2999-11G>A	XP_011514053.1:n.2999-11G>A
XM_011515752.1:c.2999-11G>A	XP_011514054.1:n.2999-11G>A
XM_011515753.1:c.2666-11G>A	XP_011514055.1:n.2666-11G>A
XM_011515754.1:c.2666-11G>A	XP_011514056.1:n.2666-11G>A
NM_000492.4:c.2909-11G>A MANE Select	NP_000483.3:n.2909-11G>A