Canonical Allele Identifier: CA368978022

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117292909T>G (hg19) ; chr7:g.117652855T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652855T>G , CM000669.2:g.117652855T>G	GRCh38
NC_000007.13:g.117292909T>G , CM000669.1:g.117292909T>G	GRCh37
NC_000007.12:g.117080145T>G	NCBI36
NG_016465.4:g.192072T>G , LRG_663:g.192072T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*96T>G	ENSP00000497673.2:n.*96T>G
ENST00000647978.2:c.*3601T>G	ENSP00000497658.1:n.*3601T>G
ENST00000649781.2:c.3704T>G	ENSP00000497203.1:p.Phe1235Cys
ENST00000685018.2:c.*100T>G	ENSP00000510194.2:n.*100T>G
ENST00000687278.2:c.*540T>G	ENSP00000509593.2:n.*540T>G
ENST00000699585.1:c.*96T>G	ENSP00000514456.1:n.*96T>G
ENST00000699598.1:c.3887T>G	ENSP00000514467.1:p.Phe1296Cys
ENST00000699599.1:c.*100T>G	ENSP00000514468.1:n.*100T>G
ENST00000699600.1:c.*548T>G	ENSP00000514469.1:n.*548T>G
ENST00000699601.1:c.*2262T>G	ENSP00000514470.1:n.*2262T>G
ENST00000699602.1:c.3881T>G	ENSP00000514471.1:p.Phe1294Cys
ENST00000699604.1:c.*3711T>G	ENSP00000514472.1:n.*3711T>G
ENST00000699605.1:c.3461T>G	ENSP00000514473.1:p.Phe1154Cys
ENST00000699606.1:n.2055T>G
ENST00000685018.1:c.751T>G	ENSP00000510194.1:n.751T>G
ENST00000687278.1:c.1674T>G	ENSP00000509593.1:n.1674T>G
ENST00000689011.1:c.469T>G
ENST00000003084.11:c.3887T>G MANE Select	ENSP00000003084.6:p.Phe1296Cys
ENST00000647720.1:c.1337T>G
ENST00000649781.1:c.3704T>G	ENSP00000497203.1:p.Phe1235Cys
ENST00000003084.10:c.3887T>G	ENSP00000003084.6:p.Phe1296Cys
ENST00000426809.5:c.3797T>G	ENSP00000389119.1:p.Phe1266Cys
ENST00000600166.1:c.13T>G
NM_000492.3:c.3887T>G , LRG_663t1:c.3887T>G	NP_000483.3:p.Phe1296Cys
XM_011515751.1:c.3977T>G	XP_011514053.1:p.Phe1326Cys
XM_011515752.1:c.3977T>G	XP_011514054.1:p.Phe1326Cys
XM_011515753.1:c.3644T>G	XP_011514055.1:p.Phe1215Cys
XM_011515754.1:c.3644T>G	XP_011514056.1:p.Phe1215Cys
NM_000492.4:c.3887T>G MANE Select	NP_000483.3:p.Phe1296Cys