Canonical Allele Identifier: CA368984397

Gene: CFTR

Linked Data

• ClinVar Variation Id: 955878
• ClinVar RCV Id: RCV001228597 ; RCV001833975
• dbSNP Id: rs1793384834
• gnomAD v4: 7-117666916-A-C
• MyVariant Identifiers: chr7:g.117306970A>C (hg19) ; chr7:g.117666916A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666916A>C , CM000669.2:g.117666916A>C	GRCh38
NC_000007.13:g.117306970A>C , CM000669.1:g.117306970A>C	GRCh37
NC_000007.12:g.117094206A>C	NCBI36
NG_016465.4:g.206133A>C , LRG_663:g.206133A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*460A>C	ENSP00000497673.2:n.*460A>C
ENST00000647978.2:c.*3965A>C	ENSP00000497658.1:n.*3965A>C
ENST00000649781.2:c.4068A>C	ENSP00000497203.1:p.Glu1356Asp
ENST00000685018.2:c.*464A>C	ENSP00000510194.2:n.*464A>C
ENST00000687278.2:c.*896-686A>C	ENSP00000509593.2:n.*896-686A>C
ENST00000699585.1:c.*720A>C	ENSP00000514456.1:n.*720A>C
ENST00000699598.1:c.4244A>C	ENSP00000514467.1:p.Lys1415Thr
ENST00000699599.1:c.*464A>C	ENSP00000514468.1:n.*464A>C
ENST00000699600.1:c.*904-686A>C	ENSP00000514469.1:n.*904-686A>C
ENST00000699601.1:c.*2626A>C	ENSP00000514470.1:n.*2626A>C
ENST00000699602.1:c.4245A>C	ENSP00000514471.1:p.Glu1415Asp
ENST00000699604.1:c.*4075A>C	ENSP00000514472.1:n.*4075A>C
ENST00000699605.1:c.3825A>C	ENSP00000514473.1:p.Glu1275Asp
ENST00000699606.1:n.3762A>C
ENST00000685018.1:c.1115A>C	ENSP00000510194.1:n.1115A>C
ENST00000687278.1:c.2030-686A>C	ENSP00000509593.1:n.2030-686A>C
ENST00000689011.1:c.1093A>C
ENST00000003084.11:c.4251A>C MANE Select	ENSP00000003084.6:p.Glu1417Asp
ENST00000647720.1:c.1701A>C
ENST00000649781.1:c.4068A>C	ENSP00000497203.1:p.Glu1356Asp
ENST00000003084.10:c.4251A>C	ENSP00000003084.6:p.Glu1417Asp
ENST00000426809.5:c.4161A>C	ENSP00000389119.1:p.Glu1387Asp
ENST00000600166.1:c.368+1352A>C
NM_000492.3:c.4251A>C , LRG_663t1:c.4251A>C	NP_000483.3:p.Glu1417Asp
XM_011515751.1:c.4341A>C	XP_011514053.1:p.Glu1447Asp
XM_011515753.1:c.4008A>C	XP_011514055.1:p.Glu1336Asp
XM_011515754.1:c.4008A>C	XP_011514056.1:p.Glu1336Asp
NM_000492.4:c.4251A>C MANE Select	NP_000483.3:p.Glu1417Asp