Canonical Allele Identifier: CA457449448

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1787777
• ClinVar RCV Id: RCV002425874
• MyVariant Identifiers: chr7:g.117232432C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117592378C>T , CM000669.2:g.117592378C>T	GRCh38
NC_000007.13:g.117232432C>T , CM000669.1:g.117232432C>T	GRCh37
NC_000007.12:g.117019668C>T	NCBI36
NG_016465.4:g.131595C>T , LRG_663:g.131595C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2211C>T	ENSP00000497673.2:p.Ser737=
ENST00000647978.2:c.*1925C>T	ENSP00000497658.1:n.*1925C>T
ENST00000649781.2:c.2028C>T	ENSP00000497203.1:p.Ser676=
ENST00000685018.2:c.2211C>T	ENSP00000510194.2:p.Ser737=
ENST00000687278.2:c.2211C>T	ENSP00000509593.2:p.Ser737=
ENST00000699585.1:c.2211C>T	ENSP00000514456.1:p.Ser737=
ENST00000699598.1:c.2211C>T	ENSP00000514467.1:p.Ser737=
ENST00000699599.1:c.2211C>T	ENSP00000514468.1:p.Ser737=
ENST00000699600.1:c.2211C>T	ENSP00000514469.1:p.Ser737=
ENST00000699601.1:c.*511C>T	ENSP00000514470.1:n.*511C>T
ENST00000699602.1:c.2211C>T	ENSP00000514471.1:p.Ser737=
ENST00000699604.1:c.*2035C>T	ENSP00000514472.1:n.*2035C>T
ENST00000699605.1:c.1785C>T	ENSP00000514473.1:p.Ser595=
ENST00000003084.11:c.2211C>T MANE Select	ENSP00000003084.6:p.Ser737=
ENST00000647978.1:c.*1925C>T	ENSP00000497658.1:n.*1925C>T
ENST00000648260.1:c.1402-10448C>T	ENSP00000497957.1:n.1402-10448C>T
ENST00000649406.1:c.2028C>T	ENSP00000497965.1:p.Ser676=
ENST00000649781.1:c.2028C>T	ENSP00000497203.1:p.Ser676=
ENST00000003084.10:c.2211C>T	ENSP00000003084.6:p.Ser737=
ENST00000426809.5:c.2121C>T	ENSP00000389119.1:p.Ser707=
NM_000492.3:c.2211C>T , LRG_663t1:c.2211C>T	NP_000483.3:p.Ser737=
XM_011515751.1:c.2301C>T	XP_011514053.1:p.Ser767=
XM_011515752.1:c.2301C>T	XP_011514054.1:p.Ser767=
XM_011515753.1:c.1968C>T	XP_011514055.1:p.Ser656=
XM_011515754.1:c.1968C>T	XP_011514056.1:p.Ser656=
NM_000492.4:c.2211C>T MANE Select	NP_000483.3:p.Ser737=