Canonical Allele Identifier: CA368977277

Gene: CFTR

Linked Data

• COSMIC: COSM4891382
• MyVariant Identifiers: chr7:g.117230479A>T (hg19) ; chr7:g.117590425A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117590425A>T , CM000669.2:g.117590425A>T	GRCh38
NC_000007.13:g.117230479A>T , CM000669.1:g.117230479A>T	GRCh37
NC_000007.12:g.117017715A>T	NCBI36
NG_016465.4:g.129642A>T , LRG_663:g.129642A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1752A>T	ENSP00000497673.2:p.Lys584Asn
ENST00000647978.2:c.*1466A>T	ENSP00000497658.1:n.*1466A>T
ENST00000649781.2:c.1569A>T	ENSP00000497203.1:p.Lys523Asn
ENST00000685018.2:c.1752A>T	ENSP00000510194.2:p.Lys584Asn
ENST00000687278.2:c.1752A>T	ENSP00000509593.2:p.Lys584Asn
ENST00000699585.1:c.1752A>T	ENSP00000514456.1:p.Lys584Asn
ENST00000699598.1:c.1752A>T	ENSP00000514467.1:p.Lys584Asn
ENST00000699599.1:c.1752A>T	ENSP00000514468.1:p.Lys584Asn
ENST00000699600.1:c.1752A>T	ENSP00000514469.1:p.Lys584Asn
ENST00000699601.1:c.*52A>T	ENSP00000514470.1:n.*52A>T
ENST00000699602.1:c.1752A>T	ENSP00000514471.1:p.Lys584Asn
ENST00000699604.1:c.*1576A>T	ENSP00000514472.1:n.*1576A>T
ENST00000699605.1:c.1326A>T	ENSP00000514473.1:p.Lys442Asn
ENST00000003084.11:c.1752A>T MANE Select	ENSP00000003084.6:p.Lys584Asn
ENST00000647978.1:c.*1466A>T	ENSP00000497658.1:n.*1466A>T
ENST00000648260.1:c.1402-12401A>T	ENSP00000497957.1:n.1402-12401A>T
ENST00000649406.1:c.1569A>T	ENSP00000497965.1:p.Lys523Asn
ENST00000649781.1:c.1569A>T	ENSP00000497203.1:p.Lys523Asn
ENST00000003084.10:c.1752A>T	ENSP00000003084.6:p.Lys584Asn
ENST00000426809.5:c.1662A>T	ENSP00000389119.1:p.Lys554Asn
NM_000492.3:c.1752A>T , LRG_663t1:c.1752A>T	NP_000483.3:p.Lys584Asn
XM_011515751.1:c.1842A>T	XP_011514053.1:p.Lys614Asn
XM_011515752.1:c.1842A>T	XP_011514054.1:p.Lys614Asn
XM_011515753.1:c.1509A>T	XP_011514055.1:p.Lys503Asn
XM_011515754.1:c.1509A>T	XP_011514056.1:p.Lys503Asn
NM_000492.4:c.1752A>T MANE Select	NP_000483.3:p.Lys584Asn