Canonical Allele Identifier: CA368975606

Gene: CFTR

Linked Data

• dbSNP Id: rs1259304050
• gnomAD v2: 7-117282639-A-G
• gnomAD v4: 7-117642585-A-G
• MyVariant Identifiers: chr7:g.117282639A>G (hg19) ; chr7:g.117642585A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642585A>G , CM000669.2:g.117642585A>G	GRCh38
NC_000007.13:g.117282639A>G , CM000669.1:g.117282639A>G	GRCh37
NC_000007.12:g.117069875A>G	NCBI36
NG_016465.4:g.181802A>G , LRG_663:g.181802A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*74A>G	ENSP00000497673.2:n.*74A>G
ENST00000647978.2:c.*3579A>G	ENSP00000497658.1:n.*3579A>G
ENST00000649781.2:c.3682A>G	ENSP00000497203.1:p.Ile1228Val
ENST00000685018.2:c.3865A>G	ENSP00000510194.2:p.Ile1289Val
ENST00000687278.2:c.*518A>G	ENSP00000509593.2:n.*518A>G
ENST00000699585.1:c.*74A>G	ENSP00000514456.1:n.*74A>G
ENST00000699598.1:c.3865A>G	ENSP00000514467.1:p.Ile1289Val
ENST00000699599.1:c.3865A>G	ENSP00000514468.1:p.Ile1289Val
ENST00000699600.1:c.*526A>G	ENSP00000514469.1:n.*526A>G
ENST00000699601.1:c.*2240A>G	ENSP00000514470.1:n.*2240A>G
ENST00000699602.1:c.3859A>G	ENSP00000514471.1:p.Ile1287Val
ENST00000699604.1:c.*3689A>G	ENSP00000514472.1:n.*3689A>G
ENST00000699605.1:c.3439A>G	ENSP00000514473.1:p.Ile1147Val
ENST00000685018.1:c.613A>G	ENSP00000510194.1:p.Ile205Val
ENST00000687278.1:c.1652A>G	ENSP00000509593.1:n.1652A>G
ENST00000689011.1:c.447A>G
ENST00000003084.11:c.3865A>G MANE Select	ENSP00000003084.6:p.Ile1289Val
ENST00000647720.1:c.1315A>G
ENST00000649781.1:c.3682A>G	ENSP00000497203.1:p.Ile1228Val
ENST00000003084.10:c.3865A>G	ENSP00000003084.6:p.Ile1289Val
ENST00000426809.5:c.3775A>G	ENSP00000389119.1:p.Ile1259Val
NM_000492.3:c.3865A>G , LRG_663t1:c.3865A>G	NP_000483.3:p.Ile1289Val
XM_011515751.1:c.3955A>G	XP_011514053.1:p.Ile1319Val
XM_011515752.1:c.3955A>G	XP_011514054.1:p.Ile1319Val
XM_011515753.1:c.3622A>G	XP_011514055.1:p.Ile1208Val
XM_011515754.1:c.3622A>G	XP_011514056.1:p.Ile1208Val
NM_000492.4:c.3865A>G MANE Select	NP_000483.3:p.Ile1289Val