Canonical Allele Identifier: CA260242

Gene: CFTR

Linked Data

• ClinVar Variation Id: 35875
• ClinVar RCV Id: RCV000029530 ; RCV001004503 ; RCV002496446
• dbSNP Id: rs193922520
• ExAC: 7:117267829 G / A
• gnomAD v2: 7-117267829-G-A
• gnomAD v4: 7-117627775-G-A
• MyVariant Identifiers: chr7:g.117267829G>A (hg19) ; chr7:g.117627775G>A (hg38)
• PubMed: PMID:12439892

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627775G>A , CM000669.2:g.117627775G>A	GRCh38
NC_000007.13:g.117267829G>A , CM000669.1:g.117267829G>A	GRCh37
NC_000007.12:g.117055065G>A	NCBI36
NG_016465.4:g.166992G>A , LRG_663:g.166992G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+205G>A	ENSP00000497673.2:n.3517+205G>A
ENST00000647978.2:c.*3431+5G>A	ENSP00000497658.1:n.*3431+5G>A
ENST00000649781.2:c.3534+5G>A	ENSP00000497203.1:n.3534+5G>A
ENST00000685018.2:c.3717+5G>A	ENSP00000510194.2:n.3717+5G>A
ENST00000687278.2:c.*370+5G>A	ENSP00000509593.2:n.*370+5G>A
ENST00000699585.1:c.3517+205G>A	ENSP00000514456.1:n.3517+205G>A
ENST00000699598.1:c.3717+5G>A	ENSP00000514467.1:n.3717+5G>A
ENST00000699599.1:c.3717+5G>A	ENSP00000514468.1:n.3717+5G>A
ENST00000699600.1:c.*378+5G>A	ENSP00000514469.1:n.*378+5G>A
ENST00000699601.1:c.*2092+5G>A	ENSP00000514470.1:n.*2092+5G>A
ENST00000699602.1:c.3711+5G>A	ENSP00000514471.1:n.3711+5G>A
ENST00000699604.1:c.*3541+5G>A	ENSP00000514472.1:n.*3541+5G>A
ENST00000699605.1:c.3291+5G>A	ENSP00000514473.1:n.3291+5G>A
ENST00000685018.1:c.465+5G>A	ENSP00000510194.1:n.465+5G>A
ENST00000687278.1:c.1504+5G>A	ENSP00000509593.1:n.1504+5G>A
ENST00000689011.1:c.299+5G>A
ENST00000003084.11:c.3717+5G>A MANE Select	ENSP00000003084.6:n.3717+5G>A
ENST00000647720.1:c.1167+205G>A
ENST00000648260.1:c.2504G>A	ENSP00000497957.1:p.Arg835Lys
ENST00000649406.1:c.3539G>A	ENSP00000497965.1:p.Arg1180Lys
ENST00000649781.1:c.3534+5G>A	ENSP00000497203.1:n.3534+5G>A
ENST00000003084.10:c.3717+5G>A	ENSP00000003084.6:n.3717+5G>A
ENST00000426809.5:c.3627+5G>A	ENSP00000389119.1:n.3627+5G>A
ENST00000468795.1:c.547G>A
NM_000492.3:c.3717+5G>A , LRG_663t1:c.3717+5G>A	NP_000483.3:n.3717+5G>A
XM_011515751.1:c.3807+5G>A	XP_011514053.1:n.3807+5G>A
XM_011515752.1:c.3807+5G>A	XP_011514054.1:n.3807+5G>A
XM_011515753.1:c.3474+5G>A	XP_011514055.1:n.3474+5G>A
XM_011515754.1:c.3474+5G>A	XP_011514056.1:n.3474+5G>A
NM_000492.4:c.3717+5G>A MANE Select	NP_000483.3:n.3717+5G>A