Canonical Allele Identifier: CA118642

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7223
• ClinVar RCV Id: RCV000007644 ; RCV000590108 ; RCV001004310 ; RCV001781201 ; RCV001826450 ; RCV003473045
• dbSNP Id: rs121909043
• ExAC: 7:117307083 C / G
• gnomAD v2: 7-117307083-C-G
• gnomAD v3: 7-117667029-C-G
• gnomAD v4: 7-117667029-C-G
• MyVariant Identifiers: chr7:g.117307083C>G (hg19) ; chr7:g.117667029C>G (hg38)
• PubMed: PMID:9499426 ; PMID:10562297 ; PMID:12651858 ; PMID:15666307 ; PMID:16801189 ; PMID:17662673 ; PMID:23276700 ; PMID:24388274 ; PMID:25304080 ; PMID:25910067 ; PMID:25963003

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667029C>G , CM000669.2:g.117667029C>G	GRCh38
NC_000007.13:g.117307083C>G , CM000669.1:g.117307083C>G	GRCh37
NC_000007.12:g.117094319C>G	NCBI36
NG_016465.4:g.206246C>G , LRG_663:g.206246C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*573C>G	ENSP00000497673.2:n.*573C>G
ENST00000647978.2:c.*4078C>G	ENSP00000497658.1:n.*4078C>G
ENST00000649781.2:c.4181C>G	ENSP00000497203.1:p.Ser1394Ter
ENST00000685018.2:c.*577C>G	ENSP00000510194.2:n.*577C>G
ENST00000687278.2:c.*896-573C>G	ENSP00000509593.2:n.*896-573C>G
ENST00000699585.1:c.*833C>G	ENSP00000514456.1:n.*833C>G
ENST00000699598.1:c.*70C>G	ENSP00000514467.1:n.*70C>G
ENST00000699599.1:c.*577C>G	ENSP00000514468.1:n.*577C>G
ENST00000699600.1:c.*904-573C>G	ENSP00000514469.1:n.*904-573C>G
ENST00000699601.1:c.*2739C>G	ENSP00000514470.1:n.*2739C>G
ENST00000699602.1:c.4358C>G	ENSP00000514471.1:p.Ser1453Ter
ENST00000699604.1:c.*4188C>G	ENSP00000514472.1:n.*4188C>G
ENST00000699605.1:c.3938C>G	ENSP00000514473.1:p.Ser1313Ter
ENST00000699606.1:n.3875C>G
ENST00000685018.1:c.1228C>G	ENSP00000510194.1:n.1228C>G
ENST00000687278.1:c.2030-573C>G	ENSP00000509593.1:n.2030-573C>G
ENST00000689011.1:c.1206C>G
ENST00000003084.11:c.4364C>G MANE Select	ENSP00000003084.6:p.Ser1455Ter
ENST00000647720.1:c.1814C>G
ENST00000649781.1:c.4181C>G	ENSP00000497203.1:p.Ser1394Ter
ENST00000003084.10:c.4364C>G	ENSP00000003084.6:p.Ser1455Ter
ENST00000426809.5:c.4274C>G	ENSP00000389119.1:p.Ser1425Ter
ENST00000600166.1:c.368+1465C>G
NM_000492.3:c.4364C>G , LRG_663t1:c.4364C>G	NP_000483.3:p.Ser1455Ter
XM_011515751.1:c.4454C>G	XP_011514053.1:p.Ser1485Ter
XM_011515753.1:c.4121C>G	XP_011514055.1:p.Ser1374Ter
XM_011515754.1:c.4121C>G	XP_011514056.1:p.Ser1374Ter
NM_000492.4:c.4364C>G MANE Select	NP_000483.3:p.Ser1455Ter