Canonical Allele Identifier: CA4451325

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1667528
• ClinVar RCV Id: RCV002189049
• dbSNP Id: rs778526355
• ExAC: 7:117246719 A / G
• gnomAD v2: 7-117246719-A-G
• gnomAD v3: 7-117606665-A-G
• gnomAD v4: 7-117606665-A-G
• MyVariant Identifiers: chr7:g.117246719A>G (hg19) ; chr7:g.117606665A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117606665A>G , CM000669.2:g.117606665A>G	GRCh38
NC_000007.13:g.117246719A>G , CM000669.1:g.117246719A>G	GRCh37
NC_000007.12:g.117033955A>G	NCBI36
NG_016465.4:g.145882A>G , LRG_663:g.145882A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2909-9A>G	ENSP00000497673.2:n.2909-9A>G
ENST00000647978.2:c.*2623-9A>G	ENSP00000497658.1:n.*2623-9A>G
ENST00000649781.2:c.2726-9A>G	ENSP00000497203.1:n.2726-9A>G
ENST00000685018.2:c.2909-9A>G	ENSP00000510194.2:n.2909-9A>G
ENST00000687278.2:c.2909-9A>G	ENSP00000509593.2:n.2909-9A>G
ENST00000699585.1:c.2909-9A>G	ENSP00000514456.1:n.2909-9A>G
ENST00000699598.1:c.2909-9A>G	ENSP00000514467.1:n.2909-9A>G
ENST00000699599.1:c.2909-9A>G	ENSP00000514468.1:n.2909-9A>G
ENST00000699600.1:c.2909-9A>G	ENSP00000514469.1:n.2909-9A>G
ENST00000699601.1:c.*1209-9A>G	ENSP00000514470.1:n.*1209-9A>G
ENST00000699602.1:c.2909-9A>G	ENSP00000514471.1:n.2909-9A>G
ENST00000699604.1:c.*2733-9A>G	ENSP00000514472.1:n.*2733-9A>G
ENST00000699605.1:c.2483-9A>G	ENSP00000514473.1:n.2483-9A>G
ENST00000687278.1:c.500-9A>G	ENSP00000509593.1:n.500-9A>G
ENST00000003084.11:c.2909-9A>G MANE Select	ENSP00000003084.6:n.2909-9A>G
ENST00000647720.1:c.559-9A>G
ENST00000648260.1:c.1691-9A>G	ENSP00000497957.1:n.1691-9A>G
ENST00000649406.1:c.2726-9A>G	ENSP00000497965.1:n.2726-9A>G
ENST00000649781.1:c.2726-9A>G	ENSP00000497203.1:n.2726-9A>G
ENST00000003084.10:c.2909-9A>G	ENSP00000003084.6:n.2909-9A>G
ENST00000426809.5:c.2819-9A>G	ENSP00000389119.1:n.2819-9A>G
NM_000492.3:c.2909-9A>G , LRG_663t1:c.2909-9A>G	NP_000483.3:n.2909-9A>G
XM_011515751.1:c.2999-9A>G	XP_011514053.1:n.2999-9A>G
XM_011515752.1:c.2999-9A>G	XP_011514054.1:n.2999-9A>G
XM_011515753.1:c.2666-9A>G	XP_011514055.1:n.2666-9A>G
XM_011515754.1:c.2666-9A>G	XP_011514056.1:n.2666-9A>G
NM_000492.4:c.2909-9A>G MANE Select	NP_000483.3:n.2909-9A>G