Canonical Allele Identifier: CA164962071

Gene: CFTR

Linked Data

• dbSNP Id: rs373479656
• gnomAD v3: 7-117667121-A-G
• gnomAD v4: 7-117667121-A-G
• MyVariant Identifiers: chr7:g.117307175A>G (hg19) ; chr7:g.117667121A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117667121A>G , CM000669.2:g.117667121A>G	GRCh38
NC_000007.13:g.117307175A>G , CM000669.1:g.117307175A>G	GRCh37
NC_000007.12:g.117094411A>G	NCBI36
NG_016465.4:g.206338A>G , LRG_663:g.206338A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*665A>G	ENSP00000497673.2:n.*665A>G
ENST00000647978.2:c.*4170A>G	ENSP00000497658.1:n.*4170A>G
ENST00000649781.2:c.*13A>G	ENSP00000497203.1:n.*13A>G
ENST00000685018.2:c.*669A>G	ENSP00000510194.2:n.*669A>G
ENST00000687278.2:c.*896-481A>G	ENSP00000509593.2:n.*896-481A>G
ENST00000699585.1:c.*925A>G	ENSP00000514456.1:n.*925A>G
ENST00000699598.1:c.*162A>G	ENSP00000514467.1:n.*162A>G
ENST00000699599.1:c.*669A>G	ENSP00000514468.1:n.*669A>G
ENST00000699600.1:c.*904-481A>G	ENSP00000514469.1:n.*904-481A>G
ENST00000699601.1:c.*2831A>G	ENSP00000514470.1:n.*2831A>G
ENST00000699602.1:c.*13A>G	ENSP00000514471.1:n.*13A>G
ENST00000699604.1:c.*4280A>G	ENSP00000514472.1:n.*4280A>G
ENST00000699605.1:c.*13A>G	ENSP00000514473.1:n.*13A>G
ENST00000699606.1:n.3967A>G
ENST00000685018.1:c.1320A>G	ENSP00000510194.1:n.1320A>G
ENST00000687278.1:c.2030-481A>G	ENSP00000509593.1:n.2030-481A>G
ENST00000689011.1:c.1298A>G
ENST00000003084.11:c.*13A>G MANE Select	ENSP00000003084.6:n.*13A>G
ENST00000647720.1:c.1906A>G
ENST00000003084.10:c.*13A>G	ENSP00000003084.6:n.*13A>G
ENST00000600166.1:c.368+1557A>G
NM_000492.3:c.*13A>G , LRG_663t1:c.*13A>G	NP_000483.3:n.*13A>G
XM_011515751.1:c.*13A>G	XP_011514053.1:n.*13A>G
XM_011515753.1:c.*13A>G	XP_011514055.1:n.*13A>G
XM_011515754.1:c.*13A>G	XP_011514056.1:n.*13A>G
NM_000492.4:c.*13A>G MANE Select	NP_000483.3:n.*13A>G