Canonical Allele Identifier: CA368982681

Gene: CFTR

Linked Data

• dbSNP Id: rs1186085927
• gnomAD v2: 7-117304850-A-G
• MyVariant Identifiers: chr7:g.117304850A>G (hg19) ; chr7:g.117664796A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664796A>G , CM000669.2:g.117664796A>G	GRCh38
NC_000007.13:g.117304850A>G , CM000669.1:g.117304850A>G	GRCh37
NC_000007.12:g.117092086A>G	NCBI36
NG_016465.4:g.204013A>G , LRG_663:g.204013A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*281A>G	ENSP00000497673.2:n.*281A>G
ENST00000647978.2:c.*3786A>G	ENSP00000497658.1:n.*3786A>G
ENST00000649781.2:c.3889A>G	ENSP00000497203.1:p.Arg1297Gly
ENST00000685018.2:c.*285A>G	ENSP00000510194.2:n.*285A>G
ENST00000687278.2:c.*725A>G	ENSP00000509593.2:n.*725A>G
ENST00000699585.1:c.*281A>G	ENSP00000514456.1:n.*281A>G
ENST00000699598.1:c.4072A>G	ENSP00000514467.1:p.Arg1358Gly
ENST00000699599.1:c.*285A>G	ENSP00000514468.1:n.*285A>G
ENST00000699600.1:c.*733A>G	ENSP00000514469.1:n.*733A>G
ENST00000699601.1:c.*2447A>G	ENSP00000514470.1:n.*2447A>G
ENST00000699602.1:c.4066A>G	ENSP00000514471.1:p.Arg1356Gly
ENST00000699604.1:c.*3896A>G	ENSP00000514472.1:n.*3896A>G
ENST00000699605.1:c.3646A>G	ENSP00000514473.1:p.Arg1216Gly
ENST00000699606.1:n.2240A>G
ENST00000685018.1:c.936A>G	ENSP00000510194.1:n.936A>G
ENST00000687278.1:c.1859A>G	ENSP00000509593.1:n.1859A>G
ENST00000689011.1:c.654A>G
ENST00000003084.11:c.4072A>G MANE Select	ENSP00000003084.6:p.Arg1358Gly
ENST00000647720.1:c.1522A>G
ENST00000649781.1:c.3889A>G	ENSP00000497203.1:p.Arg1297Gly
ENST00000003084.10:c.4072A>G	ENSP00000003084.6:p.Arg1358Gly
ENST00000426809.5:c.3982A>G	ENSP00000389119.1:p.Arg1328Gly
ENST00000600166.1:c.198A>G
NM_000492.3:c.4072A>G , LRG_663t1:c.4072A>G	NP_000483.3:p.Arg1358Gly
XM_011515751.1:c.4162A>G	XP_011514053.1:p.Arg1388Gly
XM_011515752.1:c.4162A>G	XP_011514054.1:p.Arg1388Gly
XM_011515753.1:c.3829A>G	XP_011514055.1:p.Arg1277Gly
XM_011515754.1:c.3829A>G	XP_011514056.1:p.Arg1277Gly
NM_000492.4:c.4072A>G MANE Select	NP_000483.3:p.Arg1358Gly