Canonical Allele Identifier: CA164960540

Gene: CFTR

Linked Data

• dbSNP Id: rs759218362
• gnomAD v2: 7-117305431-A-G
• gnomAD v3: 7-117665377-A-G
• gnomAD v4: 7-117665377-A-G
• MyVariant Identifiers: chr7:g.117305431A>G (hg19) ; chr7:g.117665377A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665377A>G , CM000669.2:g.117665377A>G	GRCh38
NC_000007.13:g.117305431A>G , CM000669.1:g.117305431A>G	GRCh37
NC_000007.12:g.117092667A>G	NCBI36
NG_016465.4:g.204594A>G , LRG_663:g.204594A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*346-82A>G	ENSP00000497673.2:n.*346-82A>G
ENST00000647978.2:c.*3851-82A>G	ENSP00000497658.1:n.*3851-82A>G
ENST00000649781.2:c.3954-82A>G	ENSP00000497203.1:n.3954-82A>G
ENST00000685018.2:c.*350-82A>G	ENSP00000510194.2:n.*350-82A>G
ENST00000687278.2:c.*790-82A>G	ENSP00000509593.2:n.*790-82A>G
ENST00000699585.1:c.*346-82A>G	ENSP00000514456.1:n.*346-82A>G
ENST00000699598.1:c.4137-82A>G	ENSP00000514467.1:n.4137-82A>G
ENST00000699599.1:c.*350-82A>G	ENSP00000514468.1:n.*350-82A>G
ENST00000699600.1:c.*798-82A>G	ENSP00000514469.1:n.*798-82A>G
ENST00000699601.1:c.*2512-82A>G	ENSP00000514470.1:n.*2512-82A>G
ENST00000699602.1:c.4131-82A>G	ENSP00000514471.1:n.4131-82A>G
ENST00000699604.1:c.*3961-82A>G	ENSP00000514472.1:n.*3961-82A>G
ENST00000699605.1:c.3711-82A>G	ENSP00000514473.1:n.3711-82A>G
ENST00000699606.1:n.2305-82A>G
ENST00000685018.1:c.1001-82A>G	ENSP00000510194.1:n.1001-82A>G
ENST00000687278.1:c.1924-82A>G	ENSP00000509593.1:n.1924-82A>G
ENST00000689011.1:c.719-82A>G
ENST00000003084.11:c.4137-82A>G MANE Select	ENSP00000003084.6:n.4137-82A>G
ENST00000647720.1:c.1587-82A>G
ENST00000649781.1:c.3954-82A>G	ENSP00000497203.1:n.3954-82A>G
ENST00000003084.10:c.4137-82A>G	ENSP00000003084.6:n.4137-82A>G
ENST00000426809.5:c.4047-82A>G	ENSP00000389119.1:n.4047-82A>G
ENST00000600166.1:c.263-82A>G
NM_000492.3:c.4137-82A>G , LRG_663t1:c.4137-82A>G	NP_000483.3:n.4137-82A>G
XM_011515751.1:c.4227-82A>G	XP_011514053.1:n.4227-82A>G
XM_011515752.1:c.4227-82A>G	XP_011514054.1:n.4227-82A>G
XM_011515753.1:c.3894-82A>G	XP_011514055.1:n.3894-82A>G
XM_011515754.1:c.3894-82A>G	XP_011514056.1:n.3894-82A>G
NM_000492.4:c.4137-82A>G MANE Select	NP_000483.3:n.4137-82A>G