Canonical Allele Identifier: CA233702

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53778
• ClinVar RCV Id: RCV000589513 ; RCV000757853
• dbSNP Id: rs75647395
• gnomAD v2: 7-117267714-A-G
• gnomAD v4: 7-117627660-A-G
• MyVariant Identifiers: chr7:g.117267714A>G (hg19) ; chr7:g.117627660A>G (hg38)
• PubMed: PMID:1376017 ; PMID:19715466 ; PMID:25087612 ; PMID:27870577

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627660A>G , CM000669.2:g.117627660A>G	GRCh38
NC_000007.13:g.117267714A>G , CM000669.1:g.117267714A>G	GRCh37
NC_000007.12:g.117054950A>G	NCBI36
NG_016465.4:g.166877A>G , LRG_663:g.166877A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+90A>G	ENSP00000497673.2:n.3517+90A>G
ENST00000647978.2:c.*3321A>G	ENSP00000497658.1:n.*3321A>G
ENST00000649781.2:c.3424A>G	ENSP00000497203.1:p.Ile1142Val
ENST00000685018.2:c.3607A>G	ENSP00000510194.2:p.Ile1203Val
ENST00000687278.2:c.*260A>G	ENSP00000509593.2:n.*260A>G
ENST00000699585.1:c.3517+90A>G	ENSP00000514456.1:n.3517+90A>G
ENST00000699598.1:c.3607A>G	ENSP00000514467.1:p.Ile1203Val
ENST00000699599.1:c.3607A>G	ENSP00000514468.1:p.Ile1203Val
ENST00000699600.1:c.*268A>G	ENSP00000514469.1:n.*268A>G
ENST00000699601.1:c.*1982A>G	ENSP00000514470.1:n.*1982A>G
ENST00000699602.1:c.3601A>G	ENSP00000514471.1:p.Ile1201Val
ENST00000699604.1:c.*3431A>G	ENSP00000514472.1:n.*3431A>G
ENST00000699605.1:c.3181A>G	ENSP00000514473.1:p.Ile1061Val
ENST00000685018.1:c.355A>G	ENSP00000510194.1:p.Ile119Val
ENST00000687278.1:c.1394A>G	ENSP00000509593.1:n.1394A>G
ENST00000689011.1:c.189A>G
ENST00000003084.11:c.3607A>G MANE Select	ENSP00000003084.6:p.Ile1203Val
ENST00000647720.1:c.1167+90A>G
ENST00000648260.1:c.2389A>G	ENSP00000497957.1:p.Ile797Val
ENST00000649406.1:c.3424A>G	ENSP00000497965.1:p.Ile1142Val
ENST00000649781.1:c.3424A>G	ENSP00000497203.1:p.Ile1142Val
ENST00000003084.10:c.3607A>G	ENSP00000003084.6:p.Ile1203Val
ENST00000426809.5:c.3517A>G	ENSP00000389119.1:p.Ile1173Val
ENST00000468795.1:c.432A>G
NM_000492.3:c.3607A>G , LRG_663t1:c.3607A>G	NP_000483.3:p.Ile1203Val
XM_011515751.1:c.3697A>G	XP_011514053.1:p.Ile1233Val
XM_011515752.1:c.3697A>G	XP_011514054.1:p.Ile1233Val
XM_011515753.1:c.3364A>G	XP_011514055.1:p.Ile1122Val
XM_011515754.1:c.3364A>G	XP_011514056.1:p.Ile1122Val
NM_000492.4:c.3607A>G MANE Select	NP_000483.3:p.Ile1203Val