Canonical Allele Identifier: CA368984565

Gene: CFTR

Linked Data

• dbSNP Id: rs1485675214
• MyVariant Identifiers: chr7:g.117307002A>G (hg19) ; chr7:g.117666948A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666948A>G , CM000669.2:g.117666948A>G	GRCh38
NC_000007.13:g.117307002A>G , CM000669.1:g.117307002A>G	GRCh37
NC_000007.12:g.117094238A>G	NCBI36
NG_016465.4:g.206165A>G , LRG_663:g.206165A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*492A>G	ENSP00000497673.2:n.*492A>G
ENST00000647978.2:c.*3997A>G	ENSP00000497658.1:n.*3997A>G
ENST00000649781.2:c.4100A>G	ENSP00000497203.1:p.Gln1367Arg
ENST00000685018.2:c.*496A>G	ENSP00000510194.2:n.*496A>G
ENST00000687278.2:c.*896-654A>G	ENSP00000509593.2:n.*896-654A>G
ENST00000699585.1:c.*752A>G	ENSP00000514456.1:n.*752A>G
ENST00000699598.1:c.4276A>G	ENSP00000514467.1:p.Arg1426Gly
ENST00000699599.1:c.*496A>G	ENSP00000514468.1:n.*496A>G
ENST00000699600.1:c.*904-654A>G	ENSP00000514469.1:n.*904-654A>G
ENST00000699601.1:c.*2658A>G	ENSP00000514470.1:n.*2658A>G
ENST00000699602.1:c.4277A>G	ENSP00000514471.1:p.Gln1426Arg
ENST00000699604.1:c.*4107A>G	ENSP00000514472.1:n.*4107A>G
ENST00000699605.1:c.3857A>G	ENSP00000514473.1:p.Gln1286Arg
ENST00000699606.1:n.3794A>G
ENST00000685018.1:c.1147A>G	ENSP00000510194.1:n.1147A>G
ENST00000687278.1:c.2030-654A>G	ENSP00000509593.1:n.2030-654A>G
ENST00000689011.1:c.1125A>G
ENST00000003084.11:c.4283A>G MANE Select	ENSP00000003084.6:p.Gln1428Arg
ENST00000647720.1:c.1733A>G
ENST00000649781.1:c.4100A>G	ENSP00000497203.1:p.Gln1367Arg
ENST00000003084.10:c.4283A>G	ENSP00000003084.6:p.Gln1428Arg
ENST00000426809.5:c.4193A>G	ENSP00000389119.1:p.Gln1398Arg
ENST00000600166.1:c.368+1384A>G
NM_000492.3:c.4283A>G , LRG_663t1:c.4283A>G	NP_000483.3:p.Gln1428Arg
XM_011515751.1:c.4373A>G	XP_011514053.1:p.Gln1458Arg
XM_011515753.1:c.4040A>G	XP_011514055.1:p.Gln1347Arg
XM_011515754.1:c.4040A>G	XP_011514056.1:p.Gln1347Arg
NM_000492.4:c.4283A>G MANE Select	NP_000483.3:p.Gln1428Arg