Canonical Allele Identifier: CA164962741

Gene: CFTR

Linked Data

• ClinVar Variation Id: 911438
• ClinVar RCV Id: RCV001163907
• dbSNP Id: rs530023263
• gnomAD v2: 7-117308088-G-A
• gnomAD v3: 7-117668034-G-A
• gnomAD v4: 7-117668034-G-A
• MyVariant Identifiers: chr7:g.117308088G>A (hg19) ; chr7:g.117668034G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117668034G>A , CM000669.2:g.117668034G>A	GRCh38
NC_000007.13:g.117308088G>A , CM000669.1:g.117308088G>A	GRCh37
NC_000007.12:g.117095324G>A	NCBI36
NG_016465.4:g.207251G>A , LRG_663:g.207251G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*1578G>A	ENSP00000497673.2:n.*1578G>A
ENST00000647978.2:c.*5083G>A	ENSP00000497658.1:n.*5083G>A
ENST00000649781.2:c.*926G>A	ENSP00000497203.1:n.*926G>A
ENST00000685018.2:c.*1582G>A	ENSP00000510194.2:n.*1582G>A
ENST00000687278.2:c.*1051+277G>A	ENSP00000509593.2:n.*1051+277G>A
ENST00000699585.1:c.*1838G>A	ENSP00000514456.1:n.*1838G>A
ENST00000699598.1:c.*454+277G>A	ENSP00000514467.1:n.*454+277G>A
ENST00000699599.1:c.*961+277G>A	ENSP00000514468.1:n.*961+277G>A
ENST00000699600.1:c.*1059+277G>A	ENSP00000514469.1:n.*1059+277G>A
ENST00000699601.1:c.*3744G>A	ENSP00000514470.1:n.*3744G>A
ENST00000699602.1:c.*926G>A	ENSP00000514471.1:n.*926G>A
ENST00000699604.1:c.*5193G>A	ENSP00000514472.1:n.*5193G>A
ENST00000699605.1:c.*926G>A	ENSP00000514473.1:n.*926G>A
ENST00000699606.1:n.4880G>A
ENST00000685018.1:c.2233G>A	ENSP00000510194.1:n.2233G>A
ENST00000687278.1:c.2185+277G>A	ENSP00000509593.1:n.2185+277G>A
ENST00000689011.1:c.2211G>A
ENST00000003084.11:c.*926G>A MANE Select	ENSP00000003084.6:n.*926G>A
ENST00000647720.1:c.2819G>A
ENST00000003084.10:c.*926G>A	ENSP00000003084.6:n.*926G>A
ENST00000600166.1:c.368+2470G>A
NM_000492.3:c.*926G>A , LRG_663t1:c.*926G>A	NP_000483.3:n.*926G>A
XM_011515751.1:c.*926G>A	XP_011514053.1:n.*926G>A
XM_011515753.1:c.*926G>A	XP_011514055.1:n.*926G>A
XM_011515754.1:c.*926G>A	XP_011514056.1:n.*926G>A
NM_000492.4:c.*926G>A MANE Select	NP_000483.3:n.*926G>A