Canonical Allele Identifier: CA368985136

Gene: CFTR

Linked Data

• dbSNP Id: rs1584850258
• gnomAD v3: 7-117667031-A-C
• gnomAD v4: 7-117667031-A-C
• MyVariant Identifiers: chr7:g.117307085A>C (hg19) ; chr7:g.117667031A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667031A>C , CM000669.2:g.117667031A>C	GRCh38
NC_000007.13:g.117307085A>C , CM000669.1:g.117307085A>C	GRCh37
NC_000007.12:g.117094321A>C	NCBI36
NG_016465.4:g.206248A>C , LRG_663:g.206248A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*575A>C	ENSP00000497673.2:n.*575A>C
ENST00000647978.2:c.*4080A>C	ENSP00000497658.1:n.*4080A>C
ENST00000649781.2:c.4183A>C	ENSP00000497203.1:p.Ser1395Arg
ENST00000685018.2:c.*579A>C	ENSP00000510194.2:n.*579A>C
ENST00000687278.2:c.*896-571A>C	ENSP00000509593.2:n.*896-571A>C
ENST00000699585.1:c.*835A>C	ENSP00000514456.1:n.*835A>C
ENST00000699598.1:c.*72A>C	ENSP00000514467.1:n.*72A>C
ENST00000699599.1:c.*579A>C	ENSP00000514468.1:n.*579A>C
ENST00000699600.1:c.*904-571A>C	ENSP00000514469.1:n.*904-571A>C
ENST00000699601.1:c.*2741A>C	ENSP00000514470.1:n.*2741A>C
ENST00000699602.1:c.4360A>C	ENSP00000514471.1:p.Ser1454Arg
ENST00000699604.1:c.*4190A>C	ENSP00000514472.1:n.*4190A>C
ENST00000699605.1:c.3940A>C	ENSP00000514473.1:p.Ser1314Arg
ENST00000699606.1:n.3877A>C
ENST00000685018.1:c.1230A>C	ENSP00000510194.1:n.1230A>C
ENST00000687278.1:c.2030-571A>C	ENSP00000509593.1:n.2030-571A>C
ENST00000689011.1:c.1208A>C
ENST00000003084.11:c.4366A>C MANE Select	ENSP00000003084.6:p.Ser1456Arg
ENST00000647720.1:c.1816A>C
ENST00000649781.1:c.4183A>C	ENSP00000497203.1:p.Ser1395Arg
ENST00000003084.10:c.4366A>C	ENSP00000003084.6:p.Ser1456Arg
ENST00000426809.5:c.4276A>C	ENSP00000389119.1:p.Ser1426Arg
ENST00000600166.1:c.368+1467A>C
NM_000492.3:c.4366A>C , LRG_663t1:c.4366A>C	NP_000483.3:p.Ser1456Arg
XM_011515751.1:c.4456A>C	XP_011514053.1:p.Ser1486Arg
XM_011515753.1:c.4123A>C	XP_011514055.1:p.Ser1375Arg
XM_011515754.1:c.4123A>C	XP_011514056.1:p.Ser1375Arg
NM_000492.4:c.4366A>C MANE Select	NP_000483.3:p.Ser1456Arg