Canonical Allele Identifier: CA368978523

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117232088A>T (hg19) ; chr7:g.117592034A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592034A>T , CM000669.2:g.117592034A>T	GRCh38
NC_000007.13:g.117232088A>T , CM000669.1:g.117232088A>T	GRCh37
NC_000007.12:g.117019324A>T	NCBI36
NG_016465.4:g.131251A>T , LRG_663:g.131251A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1867A>T	ENSP00000497673.2:p.Ser623Cys
ENST00000647978.2:c.*1581A>T	ENSP00000497658.1:n.*1581A>T
ENST00000649781.2:c.1684A>T	ENSP00000497203.1:p.Ser562Cys
ENST00000685018.2:c.1867A>T	ENSP00000510194.2:p.Ser623Cys
ENST00000687278.2:c.1867A>T	ENSP00000509593.2:p.Ser623Cys
ENST00000699585.1:c.1867A>T	ENSP00000514456.1:p.Ser623Cys
ENST00000699598.1:c.1867A>T	ENSP00000514467.1:p.Ser623Cys
ENST00000699599.1:c.1867A>T	ENSP00000514468.1:p.Ser623Cys
ENST00000699600.1:c.1867A>T	ENSP00000514469.1:p.Ser623Cys
ENST00000699601.1:c.*167A>T	ENSP00000514470.1:n.*167A>T
ENST00000699602.1:c.1867A>T	ENSP00000514471.1:p.Ser623Cys
ENST00000699604.1:c.*1691A>T	ENSP00000514472.1:n.*1691A>T
ENST00000699605.1:c.1441A>T	ENSP00000514473.1:p.Ser481Cys
ENST00000003084.11:c.1867A>T MANE Select	ENSP00000003084.6:p.Ser623Cys
ENST00000647978.1:c.*1581A>T	ENSP00000497658.1:n.*1581A>T
ENST00000648260.1:c.1402-10792A>T	ENSP00000497957.1:n.1402-10792A>T
ENST00000649406.1:c.1684A>T	ENSP00000497965.1:p.Ser562Cys
ENST00000649781.1:c.1684A>T	ENSP00000497203.1:p.Ser562Cys
ENST00000003084.10:c.1867A>T	ENSP00000003084.6:p.Ser623Cys
ENST00000426809.5:c.1777A>T	ENSP00000389119.1:p.Ser593Cys
NM_000492.3:c.1867A>T , LRG_663t1:c.1867A>T	NP_000483.3:p.Ser623Cys
XM_011515751.1:c.1957A>T	XP_011514053.1:p.Ser653Cys
XM_011515752.1:c.1957A>T	XP_011514054.1:p.Ser653Cys
XM_011515753.1:c.1624A>T	XP_011514055.1:p.Ser542Cys
XM_011515754.1:c.1624A>T	XP_011514056.1:p.Ser542Cys
NM_000492.4:c.1867A>T MANE Select	NP_000483.3:p.Ser623Cys