Canonical Allele Identifier: CA240027

Gene: CFTR

Linked Data

• ClinVar Variation Id: 35830
• ClinVar RCV Id: RCV000029484 ; RCV000587283 ; RCV001163395
• dbSNP Id: rs1800097
• ExAC: 7:117230411 G / A
• gnomAD v2: 7-117230411-G-A
• gnomAD v3: 7-117590357-G-A
• gnomAD v4: 7-117590357-G-A
• MyVariant Identifiers: chr7:g.117230411G>A (hg19) ; chr7:g.117590357G>A (hg38)
• PubMed: PMID:1379210 ; PMID:9239681 ; PMID:10445602 ; PMID:10447267 ; PMID:10923036 ; PMID:15333598 ; PMID:15758663 ; PMID:16189704 ; PMID:17098864 ; PMID:17329263 ; PMID:17331079 ; PMID:17572159 ; PMID:18716917 ; PMID:20651897 ; PMID:20691141 ; PMID:21708286 ; PMID:25910067

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590357G>A , CM000669.2:g.117590357G>A	GRCh38
NC_000007.13:g.117230411G>A , CM000669.1:g.117230411G>A	GRCh37
NC_000007.12:g.117017647G>A	NCBI36
NG_016465.4:g.129574G>A , LRG_663:g.129574G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1684G>A	ENSP00000497673.2:p.Val562Ile
ENST00000647978.2:c.*1398G>A	ENSP00000497658.1:n.*1398G>A
ENST00000649781.2:c.1501G>A	ENSP00000497203.1:p.Val501Ile
ENST00000685018.2:c.1684G>A	ENSP00000510194.2:p.Val562Ile
ENST00000687278.2:c.1684G>A	ENSP00000509593.2:p.Val562Ile
ENST00000699585.1:c.1684G>A	ENSP00000514456.1:p.Val562Ile
ENST00000699598.1:c.1684G>A	ENSP00000514467.1:p.Val562Ile
ENST00000699599.1:c.1684G>A	ENSP00000514468.1:p.Val562Ile
ENST00000699600.1:c.1684G>A	ENSP00000514469.1:p.Val562Ile
ENST00000699601.1:c.1680-1G>A	ENSP00000514470.1:n.1680-1G>A
ENST00000699602.1:c.1684G>A	ENSP00000514471.1:p.Val562Ile
ENST00000699604.1:c.*1508G>A	ENSP00000514472.1:n.*1508G>A
ENST00000699605.1:c.1258G>A	ENSP00000514473.1:p.Val420Ile
ENST00000003084.11:c.1684G>A MANE Select	ENSP00000003084.6:p.Val562Ile
ENST00000647978.1:c.*1398G>A	ENSP00000497658.1:n.*1398G>A
ENST00000648260.1:c.1402-12469G>A	ENSP00000497957.1:n.1402-12469G>A
ENST00000649406.1:c.1501G>A	ENSP00000497965.1:p.Val501Ile
ENST00000649781.1:c.1501G>A	ENSP00000497203.1:p.Val501Ile
ENST00000003084.10:c.1684G>A	ENSP00000003084.6:p.Val562Ile
ENST00000426809.5:c.1594G>A	ENSP00000389119.1:p.Val532Ile
NM_000492.3:c.1684G>A , LRG_663t1:c.1684G>A	NP_000483.3:p.Val562Ile
XM_011515751.1:c.1774G>A	XP_011514053.1:p.Val592Ile
XM_011515752.1:c.1774G>A	XP_011514054.1:p.Val592Ile
XM_011515753.1:c.1441G>A	XP_011514055.1:p.Val481Ile
XM_011515754.1:c.1441G>A	XP_011514056.1:p.Val481Ile
NM_000492.4:c.1684G>A MANE Select	NP_000483.3:p.Val562Ile