Canonical Allele Identifier: CA4451661

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1132741
• ClinVar RCV Id: RCV001467070
• dbSNP Id: rs368044495
• ExAC: 7:117305582 C / T
• gnomAD v2: 7-117305582-C-T
• gnomAD v3: 7-117665528-C-T
• gnomAD v4: 7-117665528-C-T
• MyVariant Identifiers: chr7:g.117305582C>T (hg19) ; chr7:g.117665528C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665528C>T , CM000669.2:g.117665528C>T	GRCh38
NC_000007.13:g.117305582C>T , CM000669.1:g.117305582C>T	GRCh37
NC_000007.12:g.117092818C>T	NCBI36
NG_016465.4:g.204745C>T , LRG_663:g.204745C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*415C>T	ENSP00000497673.2:n.*415C>T
ENST00000647978.2:c.*3920C>T	ENSP00000497658.1:n.*3920C>T
ENST00000649781.2:c.4023C>T	ENSP00000497203.1:p.His1341=
ENST00000685018.2:c.*419C>T	ENSP00000510194.2:n.*419C>T
ENST00000687278.2:c.*859C>T	ENSP00000509593.2:n.*859C>T
ENST00000699585.1:c.*415C>T	ENSP00000514456.1:n.*415C>T
ENST00000699598.1:c.4206C>T	ENSP00000514467.1:p.His1402=
ENST00000699599.1:c.*419C>T	ENSP00000514468.1:n.*419C>T
ENST00000699600.1:c.*867C>T	ENSP00000514469.1:n.*867C>T
ENST00000699601.1:c.*2581C>T	ENSP00000514470.1:n.*2581C>T
ENST00000699602.1:c.4200C>T	ENSP00000514471.1:p.His1400=
ENST00000699604.1:c.*4030C>T	ENSP00000514472.1:n.*4030C>T
ENST00000699605.1:c.3780C>T	ENSP00000514473.1:p.His1260=
ENST00000699606.1:n.2374C>T
ENST00000685018.1:c.1070C>T	ENSP00000510194.1:n.1070C>T
ENST00000687278.1:c.1993C>T	ENSP00000509593.1:n.1993C>T
ENST00000689011.1:c.788C>T
ENST00000003084.11:c.4206C>T MANE Select	ENSP00000003084.6:p.His1402=
ENST00000647720.1:c.1656C>T
ENST00000649781.1:c.4023C>T	ENSP00000497203.1:p.His1341=
ENST00000003084.10:c.4206C>T	ENSP00000003084.6:p.His1402=
ENST00000426809.5:c.4116C>T	ENSP00000389119.1:p.His1372=
ENST00000600166.1:c.332C>T
NM_000492.3:c.4206C>T , LRG_663t1:c.4206C>T	NP_000483.3:p.His1402=
XM_011515751.1:c.4296C>T	XP_011514053.1:p.His1432=
XM_011515752.1:c.4296C>T	XP_011514054.1:p.His1432=
XM_011515753.1:c.3963C>T	XP_011514055.1:p.His1321=
XM_011515754.1:c.3963C>T	XP_011514056.1:p.His1321=
NM_000492.4:c.4206C>T MANE Select	NP_000483.3:p.His1402=