Canonical Allele Identifier: CA284835

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7108
• ClinVar RCV Id: RCV000007527 ; RCV000058930 ; RCV000780153 ; RCV000660769 ; RCV001004427 ; RCV001009392 ; RCV001835624 ; RCV002247259 ; RCV003473000
• dbSNP Id: rs113993958
• ExAC: 7:117171007 G / C
• gnomAD v2: 7-117171007-G-C
• gnomAD v3: 7-117530953-G-C
• gnomAD v4: 7-117530953-G-C
• MyVariant Identifiers: chr7:g.117171007G>C (hg19) ; chr7:g.117530953G>C (hg38)
• PubMed: PMID:1937486 ; PMID:2344617 ; PMID:2565038 ; PMID:9521595 ; PMID:10719683 ; PMID:11278813 ; PMID:11446424 ; PMID:12439892 ; PMID:12752573 ; PMID:15084222 ; PMID:15371907 ; PMID:15638824 ; PMID:16436643 ; PMID:18373402 ; PMID:18456578 ; PMID:22043142 ; PMID:22504961 ; PMID:23276700 ; PMID:23420618 ; PMID:23857699 ; PMID:23891399 ; PMID:23974870 ; PMID:25024266

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117530953G>C , CM000669.2:g.117530953G>C	GRCh38
NC_000007.13:g.117171007G>C , CM000669.1:g.117171007G>C	GRCh37
NC_000007.12:g.116958243G>C	NCBI36
NG_016465.4:g.70170G>C , LRG_663:g.70170G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.328G>C	ENSP00000497673.2:p.Asp110His
ENST00000647978.2:c.*225G>C	ENSP00000497658.1:n.*225G>C
ENST00000649781.2:c.328G>C	ENSP00000497203.1:p.Asp110His
ENST00000685018.2:c.328G>C	ENSP00000510194.2:p.Asp110His
ENST00000687278.2:c.328G>C	ENSP00000509593.2:p.Asp110His
ENST00000699585.1:c.328G>C	ENSP00000514456.1:p.Asp110His
ENST00000699596.1:c.328G>C	ENSP00000514465.1:p.Asp110His
ENST00000699597.1:c.328G>C	ENSP00000514466.1:p.Asp110His
ENST00000699598.1:c.328G>C	ENSP00000514467.1:p.Asp110His
ENST00000699599.1:c.328G>C	ENSP00000514468.1:p.Asp110His
ENST00000699600.1:c.328G>C	ENSP00000514469.1:p.Asp110His
ENST00000699601.1:c.328G>C	ENSP00000514470.1:p.Asp110His
ENST00000699602.1:c.328G>C	ENSP00000514471.1:p.Asp110His
ENST00000699604.1:c.*152G>C	ENSP00000514472.1:n.*152G>C
ENST00000699605.1:c.85G>C	ENSP00000514473.1:p.Asp29His
ENST00000446805.2:c.85G>C	ENSP00000417012.1:p.Asp29His
ENST00000003084.11:c.328G>C MANE Select	ENSP00000003084.6:p.Asp110His
ENST00000647978.1:c.*225G>C	ENSP00000497658.1:n.*225G>C
ENST00000648260.1:c.328G>C	ENSP00000497957.1:p.Asp110His
ENST00000649406.1:c.328G>C	ENSP00000497965.1:p.Asp110His
ENST00000649781.1:c.328G>C	ENSP00000497203.1:p.Asp110His
ENST00000673785.1:c.85G>C	ENSP00000501235.1:p.Asp29His
ENST00000003084.10:c.328G>C	ENSP00000003084.6:p.Asp110His
ENST00000426809.5:c.328G>C	ENSP00000389119.1:p.Asp110His
ENST00000446805.1:c.85G>C	ENSP00000417012.1:p.Asp29His
NM_000492.3:c.328G>C , LRG_663t1:c.328G>C	NP_000483.3:p.Asp110His
XM_011515751.1:c.418G>C	XP_011514053.1:p.Asp140His
XM_011515752.1:c.418G>C	XP_011514054.1:p.Asp140His
XM_011515753.1:c.85G>C	XP_011514055.1:p.Asp29His
XM_011515754.1:c.85G>C	XP_011514056.1:p.Asp29His
NM_000492.4:c.328G>C MANE Select	NP_000483.3:p.Asp110His