Canonical Allele Identifier: CA368981025

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117232566A>G (hg19) ; chr7:g.117592512A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592512A>G , CM000669.2:g.117592512A>G	GRCh38
NC_000007.13:g.117232566A>G , CM000669.1:g.117232566A>G	GRCh37
NC_000007.12:g.117019802A>G	NCBI36
NG_016465.4:g.131729A>G , LRG_663:g.131729A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2345A>G	ENSP00000497673.2:p.Asn782Ser
ENST00000647978.2:c.*2059A>G	ENSP00000497658.1:n.*2059A>G
ENST00000649781.2:c.2162A>G	ENSP00000497203.1:p.Asn721Ser
ENST00000685018.2:c.2345A>G	ENSP00000510194.2:p.Asn782Ser
ENST00000687278.2:c.2345A>G	ENSP00000509593.2:p.Asn782Ser
ENST00000699585.1:c.2345A>G	ENSP00000514456.1:p.Asn782Ser
ENST00000699598.1:c.2345A>G	ENSP00000514467.1:p.Asn782Ser
ENST00000699599.1:c.2345A>G	ENSP00000514468.1:p.Asn782Ser
ENST00000699600.1:c.2345A>G	ENSP00000514469.1:p.Asn782Ser
ENST00000699601.1:c.*645A>G	ENSP00000514470.1:n.*645A>G
ENST00000699602.1:c.2345A>G	ENSP00000514471.1:p.Asn782Ser
ENST00000699604.1:c.*2169A>G	ENSP00000514472.1:n.*2169A>G
ENST00000699605.1:c.1919A>G	ENSP00000514473.1:p.Asn640Ser
ENST00000003084.11:c.2345A>G MANE Select	ENSP00000003084.6:p.Asn782Ser
ENST00000647978.1:c.*2059A>G	ENSP00000497658.1:n.*2059A>G
ENST00000648260.1:c.1402-10314A>G	ENSP00000497957.1:n.1402-10314A>G
ENST00000649406.1:c.2162A>G	ENSP00000497965.1:p.Asn721Ser
ENST00000649781.1:c.2162A>G	ENSP00000497203.1:p.Asn721Ser
ENST00000003084.10:c.2345A>G	ENSP00000003084.6:p.Asn782Ser
ENST00000426809.5:c.2255A>G	ENSP00000389119.1:p.Asn752Ser
NM_000492.3:c.2345A>G , LRG_663t1:c.2345A>G	NP_000483.3:p.Asn782Ser
XM_011515751.1:c.2435A>G	XP_011514053.1:p.Asn812Ser
XM_011515752.1:c.2435A>G	XP_011514054.1:p.Asn812Ser
XM_011515753.1:c.2102A>G	XP_011514055.1:p.Asn701Ser
XM_011515754.1:c.2102A>G	XP_011514056.1:p.Asn701Ser
NM_000492.4:c.2345A>G MANE Select	NP_000483.3:p.Asn782Ser