Canonical Allele Identifier: CA368980557

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2562521
• ClinVar RCV Id: RCV003296514
• MyVariant Identifiers: chr7:g.117232459G>C (hg19) ; chr7:g.117592405G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592405G>C , CM000669.2:g.117592405G>C	GRCh38
NC_000007.13:g.117232459G>C , CM000669.1:g.117232459G>C	GRCh37
NC_000007.12:g.117019695G>C	NCBI36
NG_016465.4:g.131622G>C , LRG_663:g.131622G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2238G>C	ENSP00000497673.2:p.Glu746Asp
ENST00000647978.2:c.*1952G>C	ENSP00000497658.1:n.*1952G>C
ENST00000649781.2:c.2055G>C	ENSP00000497203.1:p.Glu685Asp
ENST00000685018.2:c.2238G>C	ENSP00000510194.2:p.Glu746Asp
ENST00000687278.2:c.2238G>C	ENSP00000509593.2:p.Glu746Asp
ENST00000699585.1:c.2238G>C	ENSP00000514456.1:p.Glu746Asp
ENST00000699598.1:c.2238G>C	ENSP00000514467.1:p.Glu746Asp
ENST00000699599.1:c.2238G>C	ENSP00000514468.1:p.Glu746Asp
ENST00000699600.1:c.2238G>C	ENSP00000514469.1:p.Glu746Asp
ENST00000699601.1:c.*538G>C	ENSP00000514470.1:n.*538G>C
ENST00000699602.1:c.2238G>C	ENSP00000514471.1:p.Glu746Asp
ENST00000699604.1:c.*2062G>C	ENSP00000514472.1:n.*2062G>C
ENST00000699605.1:c.1812G>C	ENSP00000514473.1:p.Glu604Asp
ENST00000003084.11:c.2238G>C MANE Select	ENSP00000003084.6:p.Glu746Asp
ENST00000647978.1:c.*1952G>C	ENSP00000497658.1:n.*1952G>C
ENST00000648260.1:c.1402-10421G>C	ENSP00000497957.1:n.1402-10421G>C
ENST00000649406.1:c.2055G>C	ENSP00000497965.1:p.Glu685Asp
ENST00000649781.1:c.2055G>C	ENSP00000497203.1:p.Glu685Asp
ENST00000003084.10:c.2238G>C	ENSP00000003084.6:p.Glu746Asp
ENST00000426809.5:c.2148G>C	ENSP00000389119.1:p.Glu716Asp
NM_000492.3:c.2238G>C , LRG_663t1:c.2238G>C	NP_000483.3:p.Glu746Asp
XM_011515751.1:c.2328G>C	XP_011514053.1:p.Glu776Asp
XM_011515752.1:c.2328G>C	XP_011514054.1:p.Glu776Asp
XM_011515753.1:c.1995G>C	XP_011514055.1:p.Glu665Asp
XM_011515754.1:c.1995G>C	XP_011514056.1:p.Glu665Asp
NM_000492.4:c.2238G>C MANE Select	NP_000483.3:p.Glu746Asp