Canonical Allele Identifier: CA368992536

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1730217
• ClinVar RCV Id: RCV002326398
• gnomAD v4: 7-117611763-G-A
• MyVariant Identifiers: chr7:g.117251817G>A (hg19) ; chr7:g.117611763G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611763G>A , CM000669.2:g.117611763G>A	GRCh38
NC_000007.13:g.117251817G>A , CM000669.1:g.117251817G>A	GRCh37
NC_000007.12:g.117039053G>A	NCBI36
NG_016465.4:g.150980G>A , LRG_663:g.150980G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3322G>A	ENSP00000497673.2:p.Val1108Ile
ENST00000647978.2:c.*3036G>A	ENSP00000497658.1:n.*3036G>A
ENST00000649781.2:c.3139G>A	ENSP00000497203.1:p.Val1047Ile
ENST00000685018.2:c.3322G>A	ENSP00000510194.2:p.Val1108Ile
ENST00000687278.2:c.3322G>A	ENSP00000509593.2:p.Val1108Ile
ENST00000699585.1:c.3322G>A	ENSP00000514456.1:p.Val1108Ile
ENST00000699598.1:c.3322G>A	ENSP00000514467.1:p.Val1108Ile
ENST00000699599.1:c.3322G>A	ENSP00000514468.1:p.Val1108Ile
ENST00000699600.1:c.3322G>A	ENSP00000514469.1:p.Val1108Ile
ENST00000699601.1:c.*1622G>A	ENSP00000514470.1:n.*1622G>A
ENST00000699602.1:c.3322G>A	ENSP00000514471.1:p.Val1108Ile
ENST00000699604.1:c.*3146G>A	ENSP00000514472.1:n.*3146G>A
ENST00000699605.1:c.2896G>A	ENSP00000514473.1:p.Val966Ile
ENST00000685018.1:c.70G>A	ENSP00000510194.1:p.Val24Ile
ENST00000687278.1:c.913G>A	ENSP00000509593.1:p.Val305Ile
ENST00000003084.11:c.3322G>A MANE Select	ENSP00000003084.6:p.Val1108Ile
ENST00000647720.1:c.972G>A
ENST00000648260.1:c.2104G>A	ENSP00000497957.1:p.Val702Ile
ENST00000649406.1:c.3139G>A	ENSP00000497965.1:p.Val1047Ile
ENST00000649781.1:c.3139G>A	ENSP00000497203.1:p.Val1047Ile
ENST00000003084.10:c.3322G>A	ENSP00000003084.6:p.Val1108Ile
ENST00000426809.5:c.3232G>A	ENSP00000389119.1:p.Val1078Ile
ENST00000468795.1:c.147G>A
NM_000492.3:c.3322G>A , LRG_663t1:c.3322G>A	NP_000483.3:p.Val1108Ile
XM_011515751.1:c.3412G>A	XP_011514053.1:p.Val1138Ile
XM_011515752.1:c.3412G>A	XP_011514054.1:p.Val1138Ile
XM_011515753.1:c.3079G>A	XP_011514055.1:p.Val1027Ile
XM_011515754.1:c.3079G>A	XP_011514056.1:p.Val1027Ile
NM_000492.4:c.3322G>A MANE Select	NP_000483.3:p.Val1108Ile