Canonical Allele Identifier: CA368984523

Gene: CFTR

Linked Data

• dbSNP Id: rs2116226233
• MyVariant Identifiers: chr7:g.117306993A>T (hg19) ; chr7:g.117666939A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666939A>T , CM000669.2:g.117666939A>T	GRCh38
NC_000007.13:g.117306993A>T , CM000669.1:g.117306993A>T	GRCh37
NC_000007.12:g.117094229A>T	NCBI36
NG_016465.4:g.206156A>T , LRG_663:g.206156A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*483A>T	ENSP00000497673.2:n.*483A>T
ENST00000647978.2:c.*3988A>T	ENSP00000497658.1:n.*3988A>T
ENST00000649781.2:c.4091A>T	ENSP00000497203.1:p.Asp1364Val
ENST00000685018.2:c.*487A>T	ENSP00000510194.2:n.*487A>T
ENST00000687278.2:c.*896-663A>T	ENSP00000509593.2:n.*896-663A>T
ENST00000699585.1:c.*743A>T	ENSP00000514456.1:n.*743A>T
ENST00000699598.1:c.4267A>T	ENSP00000514467.1:p.Ile1423Phe
ENST00000699599.1:c.*487A>T	ENSP00000514468.1:n.*487A>T
ENST00000699600.1:c.*904-663A>T	ENSP00000514469.1:n.*904-663A>T
ENST00000699601.1:c.*2649A>T	ENSP00000514470.1:n.*2649A>T
ENST00000699602.1:c.4268A>T	ENSP00000514471.1:p.Asp1423Val
ENST00000699604.1:c.*4098A>T	ENSP00000514472.1:n.*4098A>T
ENST00000699605.1:c.3848A>T	ENSP00000514473.1:p.Asp1283Val
ENST00000699606.1:n.3785A>T
ENST00000685018.1:c.1138A>T	ENSP00000510194.1:n.1138A>T
ENST00000687278.1:c.2030-663A>T	ENSP00000509593.1:n.2030-663A>T
ENST00000689011.1:c.1116A>T
ENST00000003084.11:c.4274A>T MANE Select	ENSP00000003084.6:p.Asp1425Val
ENST00000647720.1:c.1724A>T
ENST00000649781.1:c.4091A>T	ENSP00000497203.1:p.Asp1364Val
ENST00000003084.10:c.4274A>T	ENSP00000003084.6:p.Asp1425Val
ENST00000426809.5:c.4184A>T	ENSP00000389119.1:p.Asp1395Val
ENST00000600166.1:c.368+1375A>T
NM_000492.3:c.4274A>T , LRG_663t1:c.4274A>T	NP_000483.3:p.Asp1425Val
XM_011515751.1:c.4364A>T	XP_011514053.1:p.Asp1455Val
XM_011515753.1:c.4031A>T	XP_011514055.1:p.Asp1344Val
XM_011515754.1:c.4031A>T	XP_011514056.1:p.Asp1344Val
NM_000492.4:c.4274A>T MANE Select	NP_000483.3:p.Asp1425Val