Canonical Allele Identifier: CA457229809

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2813964
• ClinVar RCV Id: RCV003618438
• gnomAD v4: 7-117652868-T-C
• MyVariant Identifiers: chr7:g.117292922T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652868T>C , CM000669.2:g.117652868T>C	GRCh38
NC_000007.13:g.117292922T>C , CM000669.1:g.117292922T>C	GRCh37
NC_000007.12:g.117080158T>C	NCBI36
NG_016465.4:g.192085T>C , LRG_663:g.192085T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*109T>C	ENSP00000497673.2:n.*109T>C
ENST00000647978.2:c.*3614T>C	ENSP00000497658.1:n.*3614T>C
ENST00000649781.2:c.3717T>C	ENSP00000497203.1:p.Phe1239=
ENST00000685018.2:c.*113T>C	ENSP00000510194.2:n.*113T>C
ENST00000687278.2:c.*553T>C	ENSP00000509593.2:n.*553T>C
ENST00000699585.1:c.*109T>C	ENSP00000514456.1:n.*109T>C
ENST00000699598.1:c.3900T>C	ENSP00000514467.1:p.Phe1300=
ENST00000699599.1:c.*113T>C	ENSP00000514468.1:n.*113T>C
ENST00000699600.1:c.*561T>C	ENSP00000514469.1:n.*561T>C
ENST00000699601.1:c.*2275T>C	ENSP00000514470.1:n.*2275T>C
ENST00000699602.1:c.3894T>C	ENSP00000514471.1:p.Phe1298=
ENST00000699604.1:c.*3724T>C	ENSP00000514472.1:n.*3724T>C
ENST00000699605.1:c.3474T>C	ENSP00000514473.1:p.Phe1158=
ENST00000699606.1:n.2068T>C
ENST00000685018.1:c.764T>C	ENSP00000510194.1:n.764T>C
ENST00000687278.1:c.1687T>C	ENSP00000509593.1:n.1687T>C
ENST00000689011.1:c.482T>C
ENST00000003084.11:c.3900T>C MANE Select	ENSP00000003084.6:p.Phe1300=
ENST00000647720.1:c.1350T>C
ENST00000649781.1:c.3717T>C	ENSP00000497203.1:p.Phe1239=
ENST00000003084.10:c.3900T>C	ENSP00000003084.6:p.Phe1300=
ENST00000426809.5:c.3810T>C	ENSP00000389119.1:p.Phe1270=
ENST00000600166.1:c.26T>C
NM_000492.3:c.3900T>C , LRG_663t1:c.3900T>C	NP_000483.3:p.Phe1300=
XM_011515751.1:c.3990T>C	XP_011514053.1:p.Phe1330=
XM_011515752.1:c.3990T>C	XP_011514054.1:p.Phe1330=
XM_011515753.1:c.3657T>C	XP_011514055.1:p.Phe1219=
XM_011515754.1:c.3657T>C	XP_011514056.1:p.Phe1219=
NM_000492.4:c.3900T>C MANE Select	NP_000483.3:p.Phe1300=