Canonical Allele Identifier: CA4451654

Gene: CFTR

Linked Data

• dbSNP Id: rs765036437
• ExAC: 7:117305522 A / G
• gnomAD v2: 7-117305522-A-G
• gnomAD v4: 7-117665468-A-G
• MyVariant Identifiers: chr7:g.117305522A>G (hg19) ; chr7:g.117665468A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665468A>G , CM000669.2:g.117665468A>G	GRCh38
NC_000007.13:g.117305522A>G , CM000669.1:g.117305522A>G	GRCh37
NC_000007.12:g.117092758A>G	NCBI36
NG_016465.4:g.204685A>G , LRG_663:g.204685A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*355A>G	ENSP00000497673.2:n.*355A>G
ENST00000647978.2:c.*3860A>G	ENSP00000497658.1:n.*3860A>G
ENST00000649781.2:c.3963A>G	ENSP00000497203.1:p.Gln1321=
ENST00000685018.2:c.*359A>G	ENSP00000510194.2:n.*359A>G
ENST00000687278.2:c.*799A>G	ENSP00000509593.2:n.*799A>G
ENST00000699585.1:c.*355A>G	ENSP00000514456.1:n.*355A>G
ENST00000699598.1:c.4146A>G	ENSP00000514467.1:p.Gln1382=
ENST00000699599.1:c.*359A>G	ENSP00000514468.1:n.*359A>G
ENST00000699600.1:c.*807A>G	ENSP00000514469.1:n.*807A>G
ENST00000699601.1:c.*2521A>G	ENSP00000514470.1:n.*2521A>G
ENST00000699602.1:c.4140A>G	ENSP00000514471.1:p.Gln1380=
ENST00000699604.1:c.*3970A>G	ENSP00000514472.1:n.*3970A>G
ENST00000699605.1:c.3720A>G	ENSP00000514473.1:p.Gln1240=
ENST00000699606.1:n.2314A>G
ENST00000685018.1:c.1010A>G	ENSP00000510194.1:n.1010A>G
ENST00000687278.1:c.1933A>G	ENSP00000509593.1:n.1933A>G
ENST00000689011.1:c.728A>G
ENST00000003084.11:c.4146A>G MANE Select	ENSP00000003084.6:p.Gln1382=
ENST00000647720.1:c.1596A>G
ENST00000649781.1:c.3963A>G	ENSP00000497203.1:p.Gln1321=
ENST00000003084.10:c.4146A>G	ENSP00000003084.6:p.Gln1382=
ENST00000426809.5:c.4056A>G	ENSP00000389119.1:p.Gln1352=
ENST00000600166.1:c.272A>G
NM_000492.3:c.4146A>G , LRG_663t1:c.4146A>G	NP_000483.3:p.Gln1382=
XM_011515751.1:c.4236A>G	XP_011514053.1:p.Gln1412=
XM_011515752.1:c.4236A>G	XP_011514054.1:p.Gln1412=
XM_011515753.1:c.3903A>G	XP_011514055.1:p.Gln1301=
XM_011515754.1:c.3903A>G	XP_011514056.1:p.Gln1301=
NM_000492.4:c.4146A>G MANE Select	NP_000483.3:p.Gln1382=