Canonical Allele Identifier: CA4451647

Gene: CFTR

Linked Data

• dbSNP Id: rs749744205
• ExAC: 7:117305477 T / A
• gnomAD v2: 7-117305477-T-A
• MyVariant Identifiers: chr7:g.117305477T>A (hg19) ; chr7:g.117665423T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665423T>A , CM000669.2:g.117665423T>A	GRCh38
NC_000007.13:g.117305477T>A , CM000669.1:g.117305477T>A	GRCh37
NC_000007.12:g.117092713T>A	NCBI36
NG_016465.4:g.204640T>A , LRG_663:g.204640T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*346-36T>A	ENSP00000497673.2:n.*346-36T>A
ENST00000647978.2:c.*3851-36T>A	ENSP00000497658.1:n.*3851-36T>A
ENST00000649781.2:c.3954-36T>A	ENSP00000497203.1:n.3954-36T>A
ENST00000685018.2:c.*350-36T>A	ENSP00000510194.2:n.*350-36T>A
ENST00000687278.2:c.*790-36T>A	ENSP00000509593.2:n.*790-36T>A
ENST00000699585.1:c.*346-36T>A	ENSP00000514456.1:n.*346-36T>A
ENST00000699598.1:c.4137-36T>A	ENSP00000514467.1:n.4137-36T>A
ENST00000699599.1:c.*350-36T>A	ENSP00000514468.1:n.*350-36T>A
ENST00000699600.1:c.*798-36T>A	ENSP00000514469.1:n.*798-36T>A
ENST00000699601.1:c.*2512-36T>A	ENSP00000514470.1:n.*2512-36T>A
ENST00000699602.1:c.4131-36T>A	ENSP00000514471.1:n.4131-36T>A
ENST00000699604.1:c.*3961-36T>A	ENSP00000514472.1:n.*3961-36T>A
ENST00000699605.1:c.3711-36T>A	ENSP00000514473.1:n.3711-36T>A
ENST00000699606.1:n.2305-36T>A
ENST00000685018.1:c.1001-36T>A	ENSP00000510194.1:n.1001-36T>A
ENST00000687278.1:c.1924-36T>A	ENSP00000509593.1:n.1924-36T>A
ENST00000689011.1:c.719-36T>A
ENST00000003084.11:c.4137-36T>A MANE Select	ENSP00000003084.6:n.4137-36T>A
ENST00000647720.1:c.1587-36T>A
ENST00000649781.1:c.3954-36T>A	ENSP00000497203.1:n.3954-36T>A
ENST00000003084.10:c.4137-36T>A	ENSP00000003084.6:n.4137-36T>A
ENST00000426809.5:c.4047-36T>A	ENSP00000389119.1:n.4047-36T>A
ENST00000600166.1:c.263-36T>A
NM_000492.3:c.4137-36T>A , LRG_663t1:c.4137-36T>A	NP_000483.3:n.4137-36T>A
XM_011515751.1:c.4227-36T>A	XP_011514053.1:n.4227-36T>A
XM_011515752.1:c.4227-36T>A	XP_011514054.1:n.4227-36T>A
XM_011515753.1:c.3894-36T>A	XP_011514055.1:n.3894-36T>A
XM_011515754.1:c.3894-36T>A	XP_011514056.1:n.3894-36T>A
NM_000492.4:c.4137-36T>A MANE Select	NP_000483.3:n.4137-36T>A