Canonical Allele Identifier: CA368990397

Gene: CFTR

Linked Data

• ClinVar Variation Id: 570891
• ClinVar RCV Id: RCV000691872
• dbSNP Id: rs1562914085
• gnomAD v3: 7-117610543-A-G
• gnomAD v4: 7-117610543-A-G
• MyVariant Identifiers: chr7:g.117250597A>G (hg19) ; chr7:g.117610543A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610543A>G , CM000669.2:g.117610543A>G	GRCh38
NC_000007.13:g.117250597A>G , CM000669.1:g.117250597A>G	GRCh37
NC_000007.12:g.117037833A>G	NCBI36
NG_016465.4:g.149760A>G , LRG_663:g.149760A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3013A>G	ENSP00000497673.2:p.Ile1005Val
ENST00000647978.2:c.*2727A>G	ENSP00000497658.1:n.*2727A>G
ENST00000649781.2:c.2830A>G	ENSP00000497203.1:p.Ile944Val
ENST00000685018.2:c.3013A>G	ENSP00000510194.2:p.Ile1005Val
ENST00000687278.2:c.3013A>G	ENSP00000509593.2:p.Ile1005Val
ENST00000699585.1:c.3013A>G	ENSP00000514456.1:p.Ile1005Val
ENST00000699598.1:c.3013A>G	ENSP00000514467.1:p.Ile1005Val
ENST00000699599.1:c.3013A>G	ENSP00000514468.1:p.Ile1005Val
ENST00000699600.1:c.3013A>G	ENSP00000514469.1:p.Ile1005Val
ENST00000699601.1:c.*1313A>G	ENSP00000514470.1:n.*1313A>G
ENST00000699602.1:c.3013A>G	ENSP00000514471.1:p.Ile1005Val
ENST00000699604.1:c.*2837A>G	ENSP00000514472.1:n.*2837A>G
ENST00000699605.1:c.2587A>G	ENSP00000514473.1:p.Ile863Val
ENST00000687278.1:c.604A>G	ENSP00000509593.1:p.Ile202Val
ENST00000003084.11:c.3013A>G MANE Select	ENSP00000003084.6:p.Ile1005Val
ENST00000647720.1:c.663A>G
ENST00000648260.1:c.1795A>G	ENSP00000497957.1:p.Ile599Val
ENST00000649406.1:c.2830A>G	ENSP00000497965.1:p.Ile944Val
ENST00000649781.1:c.2830A>G	ENSP00000497203.1:p.Ile944Val
ENST00000003084.10:c.3013A>G	ENSP00000003084.6:p.Ile1005Val
ENST00000426809.5:c.2923A>G	ENSP00000389119.1:p.Ile975Val
NM_000492.3:c.3013A>G , LRG_663t1:c.3013A>G	NP_000483.3:p.Ile1005Val
XM_011515751.1:c.3103A>G	XP_011514053.1:p.Ile1035Val
XM_011515752.1:c.3103A>G	XP_011514054.1:p.Ile1035Val
XM_011515753.1:c.2770A>G	XP_011514055.1:p.Ile924Val
XM_011515754.1:c.2770A>G	XP_011514056.1:p.Ile924Val
NM_000492.4:c.3013A>G MANE Select	NP_000483.3:p.Ile1005Val