Canonical Allele Identifier: CA368992353

Gene: CFTR

Linked Data

• gnomAD v4: 7-117611718-C-A
• MyVariant Identifiers: chr7:g.117251772C>A (hg19) ; chr7:g.117611718C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611718C>A , CM000669.2:g.117611718C>A	GRCh38
NC_000007.13:g.117251772C>A , CM000669.1:g.117251772C>A	GRCh37
NC_000007.12:g.117039008C>A	NCBI36
NG_016465.4:g.150935C>A , LRG_663:g.150935C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3277C>A	ENSP00000497673.2:p.Leu1093Met
ENST00000647978.2:c.*2991C>A	ENSP00000497658.1:n.*2991C>A
ENST00000649781.2:c.3094C>A	ENSP00000497203.1:p.Leu1032Met
ENST00000685018.2:c.3277C>A	ENSP00000510194.2:p.Leu1093Met
ENST00000687278.2:c.3277C>A	ENSP00000509593.2:p.Leu1093Met
ENST00000699585.1:c.3277C>A	ENSP00000514456.1:p.Leu1093Met
ENST00000699598.1:c.3277C>A	ENSP00000514467.1:p.Leu1093Met
ENST00000699599.1:c.3277C>A	ENSP00000514468.1:p.Leu1093Met
ENST00000699600.1:c.3277C>A	ENSP00000514469.1:p.Leu1093Met
ENST00000699601.1:c.*1577C>A	ENSP00000514470.1:n.*1577C>A
ENST00000699602.1:c.3277C>A	ENSP00000514471.1:p.Leu1093Met
ENST00000699604.1:c.*3101C>A	ENSP00000514472.1:n.*3101C>A
ENST00000699605.1:c.2851C>A	ENSP00000514473.1:p.Leu951Met
ENST00000685018.1:c.25C>A	ENSP00000510194.1:p.Leu9Met
ENST00000687278.1:c.868C>A	ENSP00000509593.1:p.Leu290Met
ENST00000003084.11:c.3277C>A MANE Select	ENSP00000003084.6:p.Leu1093Met
ENST00000647720.1:c.927C>A
ENST00000648260.1:c.2059C>A	ENSP00000497957.1:p.Leu687Met
ENST00000649406.1:c.3094C>A	ENSP00000497965.1:p.Leu1032Met
ENST00000649781.1:c.3094C>A	ENSP00000497203.1:p.Leu1032Met
ENST00000003084.10:c.3277C>A	ENSP00000003084.6:p.Leu1093Met
ENST00000426809.5:c.3187C>A	ENSP00000389119.1:p.Leu1063Met
ENST00000468795.1:c.102C>A
NM_000492.3:c.3277C>A , LRG_663t1:c.3277C>A	NP_000483.3:p.Leu1093Met
XM_011515751.1:c.3367C>A	XP_011514053.1:p.Leu1123Met
XM_011515752.1:c.3367C>A	XP_011514054.1:p.Leu1123Met
XM_011515753.1:c.3034C>A	XP_011514055.1:p.Leu1012Met
XM_011515754.1:c.3034C>A	XP_011514056.1:p.Leu1012Met
NM_000492.4:c.3277C>A MANE Select	NP_000483.3:p.Leu1093Met