Canonical Allele Identifier: CA368984404

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2453622
• ClinVar RCV Id: RCV003187757
• gnomAD v4: 7-117666918-A-G
• MyVariant Identifiers: chr7:g.117306972A>G (hg19) ; chr7:g.117666918A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666918A>G , CM000669.2:g.117666918A>G	GRCh38
NC_000007.13:g.117306972A>G , CM000669.1:g.117306972A>G	GRCh37
NC_000007.12:g.117094208A>G	NCBI36
NG_016465.4:g.206135A>G , LRG_663:g.206135A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*462A>G	ENSP00000497673.2:n.*462A>G
ENST00000647978.2:c.*3967A>G	ENSP00000497658.1:n.*3967A>G
ENST00000649781.2:c.4070A>G	ENSP00000497203.1:p.Glu1357Gly
ENST00000685018.2:c.*466A>G	ENSP00000510194.2:n.*466A>G
ENST00000687278.2:c.*896-684A>G	ENSP00000509593.2:n.*896-684A>G
ENST00000699585.1:c.*722A>G	ENSP00000514456.1:n.*722A>G
ENST00000699598.1:c.4246A>G	ENSP00000514467.1:p.Arg1416Gly
ENST00000699599.1:c.*466A>G	ENSP00000514468.1:n.*466A>G
ENST00000699600.1:c.*904-684A>G	ENSP00000514469.1:n.*904-684A>G
ENST00000699601.1:c.*2628A>G	ENSP00000514470.1:n.*2628A>G
ENST00000699602.1:c.4247A>G	ENSP00000514471.1:p.Glu1416Gly
ENST00000699604.1:c.*4077A>G	ENSP00000514472.1:n.*4077A>G
ENST00000699605.1:c.3827A>G	ENSP00000514473.1:p.Glu1276Gly
ENST00000699606.1:n.3764A>G
ENST00000685018.1:c.1117A>G	ENSP00000510194.1:n.1117A>G
ENST00000687278.1:c.2030-684A>G	ENSP00000509593.1:n.2030-684A>G
ENST00000689011.1:c.1095A>G
ENST00000003084.11:c.4253A>G MANE Select	ENSP00000003084.6:p.Glu1418Gly
ENST00000647720.1:c.1703A>G
ENST00000649781.1:c.4070A>G	ENSP00000497203.1:p.Glu1357Gly
ENST00000003084.10:c.4253A>G	ENSP00000003084.6:p.Glu1418Gly
ENST00000426809.5:c.4163A>G	ENSP00000389119.1:p.Glu1388Gly
ENST00000600166.1:c.368+1354A>G
NM_000492.3:c.4253A>G , LRG_663t1:c.4253A>G	NP_000483.3:p.Glu1418Gly
XM_011515751.1:c.4343A>G	XP_011514053.1:p.Glu1448Gly
XM_011515753.1:c.4010A>G	XP_011514055.1:p.Glu1337Gly
XM_011515754.1:c.4010A>G	XP_011514056.1:p.Glu1337Gly
NM_000492.4:c.4253A>G MANE Select	NP_000483.3:p.Glu1418Gly