Canonical Allele Identifier: CA4451666

Gene: CFTR

Linked Data

• ClinVar Variation Id: 853528
• ClinVar RCV Id: RCV001058351 ; RCV001201223 ; RCV001827365
• dbSNP Id: rs142092183
• ExAC: 7:117305613 T / C
• gnomAD v2: 7-117305613-T-C
• gnomAD v3: 7-117665559-T-C
• gnomAD v4: 7-117665559-T-C
• MyVariant Identifiers: chr7:g.117305613T>C (hg19) ; chr7:g.117665559T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665559T>C , CM000669.2:g.117665559T>C	GRCh38
NC_000007.13:g.117305613T>C , CM000669.1:g.117305613T>C	GRCh37
NC_000007.12:g.117092849T>C	NCBI36
NG_016465.4:g.204776T>C , LRG_663:g.204776T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*446T>C	ENSP00000497673.2:n.*446T>C
ENST00000647978.2:c.*3951T>C	ENSP00000497658.1:n.*3951T>C
ENST00000649781.2:c.4054T>C	ENSP00000497203.1:p.Phe1352Leu
ENST00000685018.2:c.*450T>C	ENSP00000510194.2:n.*450T>C
ENST00000687278.2:c.*890T>C	ENSP00000509593.2:n.*890T>C
ENST00000699585.1:c.*446T>C	ENSP00000514456.1:n.*446T>C
ENST00000699598.1:c.4237T>C	ENSP00000514467.1:p.Phe1413Leu
ENST00000699599.1:c.*450T>C	ENSP00000514468.1:n.*450T>C
ENST00000699600.1:c.*898T>C	ENSP00000514469.1:n.*898T>C
ENST00000699601.1:c.*2612T>C	ENSP00000514470.1:n.*2612T>C
ENST00000699602.1:c.4231T>C	ENSP00000514471.1:p.Phe1411Leu
ENST00000699604.1:c.*4061T>C	ENSP00000514472.1:n.*4061T>C
ENST00000699605.1:c.3811T>C	ENSP00000514473.1:p.Phe1271Leu
ENST00000699606.1:n.2405T>C
ENST00000685018.1:c.1101T>C	ENSP00000510194.1:n.1101T>C
ENST00000687278.1:c.2024T>C	ENSP00000509593.1:n.2024T>C
ENST00000689011.1:c.819T>C
ENST00000003084.11:c.4237T>C MANE Select	ENSP00000003084.6:p.Phe1413Leu
ENST00000647720.1:c.1687T>C
ENST00000649781.1:c.4054T>C	ENSP00000497203.1:p.Phe1352Leu
ENST00000003084.10:c.4237T>C	ENSP00000003084.6:p.Phe1413Leu
ENST00000426809.5:c.4147T>C	ENSP00000389119.1:p.Phe1383Leu
ENST00000600166.1:c.363T>C
NM_000492.3:c.4237T>C , LRG_663t1:c.4237T>C	NP_000483.3:p.Phe1413Leu
XM_011515751.1:c.4327T>C	XP_011514053.1:p.Phe1443Leu
XM_011515752.1:c.4327T>C	XP_011514054.1:p.Phe1443Leu
XM_011515753.1:c.3994T>C	XP_011514055.1:p.Phe1332Leu
XM_011515754.1:c.3994T>C	XP_011514056.1:p.Phe1332Leu
NM_000492.4:c.4237T>C MANE Select	NP_000483.3:p.Phe1413Leu