Canonical Allele Identifier: CA457448959

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1791101
• ClinVar RCV Id: RCV002450432
• MyVariant Identifiers: chr7:g.117232648A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592594A>T , CM000669.2:g.117592594A>T	GRCh38
NC_000007.13:g.117232648A>T , CM000669.1:g.117232648A>T	GRCh37
NC_000007.12:g.117019884A>T	NCBI36
NG_016465.4:g.131811A>T , LRG_663:g.131811A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2427A>T	ENSP00000497673.2:p.Ser809=
ENST00000647978.2:c.*2141A>T	ENSP00000497658.1:n.*2141A>T
ENST00000649781.2:c.2244A>T	ENSP00000497203.1:p.Ser748=
ENST00000685018.2:c.2427A>T	ENSP00000510194.2:p.Ser809=
ENST00000687278.2:c.2427A>T	ENSP00000509593.2:p.Ser809=
ENST00000699585.1:c.2427A>T	ENSP00000514456.1:p.Ser809=
ENST00000699598.1:c.2427A>T	ENSP00000514467.1:p.Ser809=
ENST00000699599.1:c.2427A>T	ENSP00000514468.1:p.Ser809=
ENST00000699600.1:c.2427A>T	ENSP00000514469.1:p.Ser809=
ENST00000699601.1:c.*727A>T	ENSP00000514470.1:n.*727A>T
ENST00000699602.1:c.2427A>T	ENSP00000514471.1:p.Ser809=
ENST00000699604.1:c.*2251A>T	ENSP00000514472.1:n.*2251A>T
ENST00000699605.1:c.2001A>T	ENSP00000514473.1:p.Ser667=
ENST00000687278.1:c.18A>T	ENSP00000509593.1:p.Ser6=
ENST00000003084.11:c.2427A>T MANE Select	ENSP00000003084.6:p.Ser809=
ENST00000647720.1:c.77A>T
ENST00000647978.1:c.*2141A>T	ENSP00000497658.1:n.*2141A>T
ENST00000648260.1:c.1402-10232A>T	ENSP00000497957.1:n.1402-10232A>T
ENST00000649406.1:c.2244A>T	ENSP00000497965.1:p.Ser748=
ENST00000649781.1:c.2244A>T	ENSP00000497203.1:p.Ser748=
ENST00000003084.10:c.2427A>T	ENSP00000003084.6:p.Ser809=
ENST00000426809.5:c.2337A>T	ENSP00000389119.1:p.Ser779=
NM_000492.3:c.2427A>T , LRG_663t1:c.2427A>T	NP_000483.3:p.Ser809=
XM_011515751.1:c.2517A>T	XP_011514053.1:p.Ser839=
XM_011515752.1:c.2517A>T	XP_011514054.1:p.Ser839=
XM_011515753.1:c.2184A>T	XP_011514055.1:p.Ser728=
XM_011515754.1:c.2184A>T	XP_011514056.1:p.Ser728=
NM_000492.4:c.2427A>T MANE Select	NP_000483.3:p.Ser809=