Canonical Allele Identifier: CA340630

Gene: CFTR

Linked Data

• ClinVar Variation Id: 7110
• ClinVar RCV Id: RCV000007530 ; RCV001004251 ; RCV001831520 ; RCV001530124 ; RCV002504761 ; RCV003473002
• dbSNP Id: rs77932196
• ExAC: 7:117180324 G / C
• gnomAD v2: 7-117180324-G-C
• gnomAD v3: 7-117540270-G-C
• gnomAD v4: 7-117540270-G-C
• MyVariant Identifiers: chr7:g.117180324G>C (hg19) ; chr7:g.117540270G>C (hg38)
• PubMed: PMID:1937486 ; PMID:3110945 ; PMID:11280952 ; PMID:12767731 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540270G>C , CM000669.2:g.117540270G>C	GRCh38
NC_000007.13:g.117180324G>C , CM000669.1:g.117180324G>C	GRCh37
NC_000007.12:g.116967560G>C	NCBI36
NG_016465.4:g.79487G>C , LRG_663:g.79487G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1040G>C	ENSP00000497673.2:p.Arg347Pro
ENST00000647978.2:c.*937G>C	ENSP00000497658.1:n.*937G>C
ENST00000649781.2:c.1040G>C	ENSP00000497203.1:p.Arg347Pro
ENST00000685018.2:c.1040G>C	ENSP00000510194.2:p.Arg347Pro
ENST00000687278.2:c.1040G>C	ENSP00000509593.2:p.Arg347Pro
ENST00000699585.1:c.1040G>C	ENSP00000514456.1:p.Arg347Pro
ENST00000699596.1:c.1040G>C	ENSP00000514465.1:p.Arg347Pro
ENST00000699597.1:c.1040G>C	ENSP00000514466.1:p.Arg347Pro
ENST00000699598.1:c.1040G>C	ENSP00000514467.1:p.Arg347Pro
ENST00000699599.1:c.1040G>C	ENSP00000514468.1:p.Arg347Pro
ENST00000699600.1:c.1040G>C	ENSP00000514469.1:p.Arg347Pro
ENST00000699601.1:c.1040G>C	ENSP00000514470.1:p.Arg347Pro
ENST00000699602.1:c.1040G>C	ENSP00000514471.1:p.Arg347Pro
ENST00000699604.1:c.*864G>C	ENSP00000514472.1:n.*864G>C
ENST00000699605.1:c.797G>C	ENSP00000514473.1:p.Arg266Pro
ENST00000003084.11:c.1040G>C MANE Select	ENSP00000003084.6:p.Arg347Pro
ENST00000647978.1:c.*937G>C	ENSP00000497658.1:n.*937G>C
ENST00000648260.1:c.1040G>C	ENSP00000497957.1:p.Arg347Pro
ENST00000649406.1:c.1040G>C	ENSP00000497965.1:p.Arg347Pro
ENST00000649781.1:c.1040G>C	ENSP00000497203.1:p.Arg347Pro
ENST00000673785.1:c.797G>C	ENSP00000501235.1:p.Arg266Pro
ENST00000003084.10:c.1040G>C	ENSP00000003084.6:p.Arg347Pro
ENST00000426809.5:c.950G>C	ENSP00000389119.1:p.Arg317Pro
NM_000492.3:c.1040G>C , LRG_663t1:c.1040G>C	NP_000483.3:p.Arg347Pro
XM_011515751.1:c.1130G>C	XP_011514053.1:p.Arg377Pro
XM_011515752.1:c.1130G>C	XP_011514054.1:p.Arg377Pro
XM_011515753.1:c.797G>C	XP_011514055.1:p.Arg266Pro
XM_011515754.1:c.797G>C	XP_011514056.1:p.Arg266Pro
NM_000492.4:c.1040G>C MANE Select	NP_000483.3:p.Arg347Pro