Canonical Allele Identifier: CA368984482

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1739215
• ClinVar RCV Id: RCV002329990
• MyVariant Identifiers: chr7:g.117306987A>G (hg19) ; chr7:g.117666933A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666933A>G , CM000669.2:g.117666933A>G	GRCh38
NC_000007.13:g.117306987A>G , CM000669.1:g.117306987A>G	GRCh37
NC_000007.12:g.117094223A>G	NCBI36
NG_016465.4:g.206150A>G , LRG_663:g.206150A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*477A>G	ENSP00000497673.2:n.*477A>G
ENST00000647978.2:c.*3982A>G	ENSP00000497658.1:n.*3982A>G
ENST00000649781.2:c.4085A>G	ENSP00000497203.1:p.Gln1362Arg
ENST00000685018.2:c.*481A>G	ENSP00000510194.2:n.*481A>G
ENST00000687278.2:c.*896-669A>G	ENSP00000509593.2:n.*896-669A>G
ENST00000699585.1:c.*737A>G	ENSP00000514456.1:n.*737A>G
ENST00000699598.1:c.4261A>G	ENSP00000514467.1:p.Ser1421Gly
ENST00000699599.1:c.*481A>G	ENSP00000514468.1:n.*481A>G
ENST00000699600.1:c.*904-669A>G	ENSP00000514469.1:n.*904-669A>G
ENST00000699601.1:c.*2643A>G	ENSP00000514470.1:n.*2643A>G
ENST00000699602.1:c.4262A>G	ENSP00000514471.1:p.Gln1421Arg
ENST00000699604.1:c.*4092A>G	ENSP00000514472.1:n.*4092A>G
ENST00000699605.1:c.3842A>G	ENSP00000514473.1:p.Gln1281Arg
ENST00000699606.1:n.3779A>G
ENST00000685018.1:c.1132A>G	ENSP00000510194.1:n.1132A>G
ENST00000687278.1:c.2030-669A>G	ENSP00000509593.1:n.2030-669A>G
ENST00000689011.1:c.1110A>G
ENST00000003084.11:c.4268A>G MANE Select	ENSP00000003084.6:p.Gln1423Arg
ENST00000647720.1:c.1718A>G
ENST00000649781.1:c.4085A>G	ENSP00000497203.1:p.Gln1362Arg
ENST00000003084.10:c.4268A>G	ENSP00000003084.6:p.Gln1423Arg
ENST00000426809.5:c.4178A>G	ENSP00000389119.1:p.Gln1393Arg
ENST00000600166.1:c.368+1369A>G
NM_000492.3:c.4268A>G , LRG_663t1:c.4268A>G	NP_000483.3:p.Gln1423Arg
XM_011515751.1:c.4358A>G	XP_011514053.1:p.Gln1453Arg
XM_011515753.1:c.4025A>G	XP_011514055.1:p.Gln1342Arg
XM_011515754.1:c.4025A>G	XP_011514056.1:p.Gln1342Arg
NM_000492.4:c.4268A>G MANE Select	NP_000483.3:p.Gln1423Arg