Canonical Allele Identifier: CA10628077
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 358746
ClinVar RCV Id: RCV000375001 RCV000596703 RCV001095149 RCV002258884 RCV002292541
dbSNP Id: rs10234329
gnomAD v2: 7-117308205-A-C
gnomAD v3: 7-117668151-A-C
gnomAD v4: 7-117668151-A-C
MyVariant Identifiers: chr7:g.117308205A>C (hg19) chr7:g.117668151A>C (hg38)
PubMed: PMID:23555973
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117668151A>C , CM000669.2:g.117668151A>C GRCh38
NC_000007.13:g.117308205A>C , CM000669.1:g.117308205A>C GRCh37
NC_000007.12:g.117095441A>C NCBI36
NG_016465.4:g.207368A>C , LRG_663:g.207368A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.*1695A>C ENSP00000497673.2:n.*1695A>C
ENST00000647978.2:c.*5200A>C ENSP00000497658.1:n.*5200A>C
ENST00000649781.2:c.*1043A>C ENSP00000497203.1:n.*1043A>C
ENST00000685018.2:c.*1699A>C ENSP00000510194.2:n.*1699A>C
ENST00000687278.2:c.*1052-328A>C ENSP00000509593.2:n.*1052-328A>C
ENST00000699585.1:c.*1955A>C ENSP00000514456.1:n.*1955A>C
ENST00000699598.1:c.*455-328A>C ENSP00000514467.1:n.*455-328A>C
ENST00000699599.1:c.*962-328A>C ENSP00000514468.1:n.*962-328A>C
ENST00000699600.1:c.*1060-328A>C ENSP00000514469.1:n.*1060-328A>C
ENST00000699601.1:c.*3861A>C ENSP00000514470.1:n.*3861A>C
ENST00000699602.1:c.*1043A>C ENSP00000514471.1:n.*1043A>C
ENST00000699604.1:c.*5310A>C ENSP00000514472.1:n.*5310A>C
ENST00000699605.1:c.*1043A>C ENSP00000514473.1:n.*1043A>C
ENST00000699606.1:n.4997A>C
ENST00000685018.1:c.2350A>C ENSP00000510194.1:n.2350A>C
ENST00000687278.1:c.2186-328A>C ENSP00000509593.1:n.2186-328A>C
ENST00000689011.1:c.2328A>C
ENST00000003084.11:c.*1043A>C MANE Select ENSP00000003084.6:n.*1043A>C
ENST00000647720.1:c.2936A>C
ENST00000003084.10:c.*1043A>C ENSP00000003084.6:n.*1043A>C
ENST00000600166.1:c.368+2587A>C
NM_000492.3:c.*1043A>C , LRG_663t1:c.*1043A>C NP_000483.3:n.*1043A>C
XM_011515751.1:c.*1043A>C XP_011514053.1:n.*1043A>C
XM_011515753.1:c.*1043A>C XP_011514055.1:n.*1043A>C
XM_011515754.1:c.*1043A>C XP_011514056.1:n.*1043A>C
NM_000492.4:c.*1043A>C MANE Select NP_000483.3:n.*1043A>C
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