Canonical Allele Identifier: CA146702

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53928
• ClinVar RCV Id: RCV000079004 ; RCV001158877 ; RCV001528665 ; RCV001080172
• dbSNP Id: rs138642693
• ExAC: 7:117305628 T / C
• gnomAD v2: 7-117305628-T-C
• gnomAD v3: 7-117665574-T-C
• gnomAD v4: 7-117665574-T-C
• MyVariant Identifiers: chr7:g.117305628T>C (hg19) ; chr7:g.117665574T>C (hg38)
• PubMed: PMID:11379874 ; PMID:25087612 ; PMID:28040058

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665574T>C , CM000669.2:g.117665574T>C	GRCh38
NC_000007.13:g.117305628T>C , CM000669.1:g.117305628T>C	GRCh37
NC_000007.12:g.117092864T>C	NCBI36
NG_016465.4:g.204791T>C , LRG_663:g.204791T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*451+10T>C	ENSP00000497673.2:n.*451+10T>C
ENST00000647978.2:c.*3956+10T>C	ENSP00000497658.1:n.*3956+10T>C
ENST00000649781.2:c.4059+10T>C	ENSP00000497203.1:n.4059+10T>C
ENST00000685018.2:c.*455+10T>C	ENSP00000510194.2:n.*455+10T>C
ENST00000687278.2:c.*895+10T>C	ENSP00000509593.2:n.*895+10T>C
ENST00000699585.1:c.*451+10T>C	ENSP00000514456.1:n.*451+10T>C
ENST00000699598.1:c.4242+10T>C	ENSP00000514467.1:n.4242+10T>C
ENST00000699599.1:c.*455+10T>C	ENSP00000514468.1:n.*455+10T>C
ENST00000699600.1:c.*903+10T>C	ENSP00000514469.1:n.*903+10T>C
ENST00000699601.1:c.*2617+10T>C	ENSP00000514470.1:n.*2617+10T>C
ENST00000699602.1:c.4236+10T>C	ENSP00000514471.1:n.4236+10T>C
ENST00000699604.1:c.*4066+10T>C	ENSP00000514472.1:n.*4066+10T>C
ENST00000699605.1:c.3816+10T>C	ENSP00000514473.1:n.3816+10T>C
ENST00000699606.1:n.2420T>C
ENST00000685018.1:c.1106+10T>C	ENSP00000510194.1:n.1106+10T>C
ENST00000687278.1:c.2029+10T>C	ENSP00000509593.1:n.2029+10T>C
ENST00000689011.1:c.824+10T>C
ENST00000003084.11:c.4242+10T>C MANE Select	ENSP00000003084.6:n.4242+10T>C
ENST00000647720.1:c.1692+10T>C
ENST00000649781.1:c.4059+10T>C	ENSP00000497203.1:n.4059+10T>C
ENST00000003084.10:c.4242+10T>C	ENSP00000003084.6:n.4242+10T>C
ENST00000426809.5:c.4152+10T>C	ENSP00000389119.1:n.4152+10T>C
ENST00000600166.1:c.368+10T>C
NM_000492.3:c.4242+10T>C , LRG_663t1:c.4242+10T>C	NP_000483.3:n.4242+10T>C
XM_011515751.1:c.4332+10T>C	XP_011514053.1:n.4332+10T>C
XM_011515752.1:c.4332+10T>C	XP_011514054.1:n.4332+10T>C
XM_011515753.1:c.3999+10T>C	XP_011514055.1:n.3999+10T>C
XM_011515754.1:c.3999+10T>C	XP_011514056.1:n.3999+10T>C
NM_000492.4:c.4242+10T>C MANE Select	NP_000483.3:n.4242+10T>C