Canonical Allele Identifier: CA4451555

Gene: CFTR

Linked Data

• ClinVar Variation Id: 455776
• ClinVar RCV Id: RCV000530649
• dbSNP Id: rs752127256
• ExAC: 7:117282616 A / G
• gnomAD v2: 7-117282616-A-G
• gnomAD v4: 7-117642562-A-G
• MyVariant Identifiers: chr7:g.117282616A>G (hg19) ; chr7:g.117642562A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642562A>G , CM000669.2:g.117642562A>G	GRCh38
NC_000007.13:g.117282616A>G , CM000669.1:g.117282616A>G	GRCh37
NC_000007.12:g.117069852A>G	NCBI36
NG_016465.4:g.181779A>G , LRG_663:g.181779A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*51A>G	ENSP00000497673.2:n.*51A>G
ENST00000647978.2:c.*3556A>G	ENSP00000497658.1:n.*3556A>G
ENST00000649781.2:c.3659A>G	ENSP00000497203.1:p.Gln1220Arg
ENST00000685018.2:c.3842A>G	ENSP00000510194.2:p.Gln1281Arg
ENST00000687278.2:c.*495A>G	ENSP00000509593.2:n.*495A>G
ENST00000699585.1:c.*51A>G	ENSP00000514456.1:n.*51A>G
ENST00000699598.1:c.3842A>G	ENSP00000514467.1:p.Gln1281Arg
ENST00000699599.1:c.3842A>G	ENSP00000514468.1:p.Gln1281Arg
ENST00000699600.1:c.*503A>G	ENSP00000514469.1:n.*503A>G
ENST00000699601.1:c.*2217A>G	ENSP00000514470.1:n.*2217A>G
ENST00000699602.1:c.3836A>G	ENSP00000514471.1:p.Gln1279Arg
ENST00000699604.1:c.*3666A>G	ENSP00000514472.1:n.*3666A>G
ENST00000699605.1:c.3416A>G	ENSP00000514473.1:p.Gln1139Arg
ENST00000685018.1:c.590A>G	ENSP00000510194.1:p.Gln197Arg
ENST00000687278.1:c.1629A>G	ENSP00000509593.1:n.1629A>G
ENST00000689011.1:c.424A>G
ENST00000003084.11:c.3842A>G MANE Select	ENSP00000003084.6:p.Gln1281Arg
ENST00000647720.1:c.1292A>G
ENST00000649781.1:c.3659A>G	ENSP00000497203.1:p.Gln1220Arg
ENST00000003084.10:c.3842A>G	ENSP00000003084.6:p.Gln1281Arg
ENST00000426809.5:c.3752A>G	ENSP00000389119.1:p.Gln1251Arg
NM_000492.3:c.3842A>G , LRG_663t1:c.3842A>G	NP_000483.3:p.Gln1281Arg
XM_011515751.1:c.3932A>G	XP_011514053.1:p.Gln1311Arg
XM_011515752.1:c.3932A>G	XP_011514054.1:p.Gln1311Arg
XM_011515753.1:c.3599A>G	XP_011514055.1:p.Gln1200Arg
XM_011515754.1:c.3599A>G	XP_011514056.1:p.Gln1200Arg
NM_000492.4:c.3842A>G MANE Select	NP_000483.3:p.Gln1281Arg