Canonical Allele Identifier: CA368982423

Gene: CFTR

Linked Data

• ClinVar Variation Id: 932918
• ClinVar RCV Id: RCV001200887
• dbSNP Id: rs1313341594
• gnomAD v2: 7-117304815-T-A
• gnomAD v3: 7-117664761-T-A
• gnomAD v4: 7-117664761-T-A
• MyVariant Identifiers: chr7:g.117304815T>A (hg19) ; chr7:g.117664761T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117664761T>A , CM000669.2:g.117664761T>A	GRCh38
NC_000007.13:g.117304815T>A , CM000669.1:g.117304815T>A	GRCh37
NC_000007.12:g.117092051T>A	NCBI36
NG_016465.4:g.203978T>A , LRG_663:g.203978T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*246T>A	ENSP00000497673.2:n.*246T>A
ENST00000647978.2:c.*3751T>A	ENSP00000497658.1:n.*3751T>A
ENST00000649781.2:c.3854T>A	ENSP00000497203.1:p.Leu1285Gln
ENST00000685018.2:c.*250T>A	ENSP00000510194.2:n.*250T>A
ENST00000687278.2:c.*690T>A	ENSP00000509593.2:n.*690T>A
ENST00000699585.1:c.*246T>A	ENSP00000514456.1:n.*246T>A
ENST00000699598.1:c.4037T>A	ENSP00000514467.1:p.Leu1346Gln
ENST00000699599.1:c.*250T>A	ENSP00000514468.1:n.*250T>A
ENST00000699600.1:c.*698T>A	ENSP00000514469.1:n.*698T>A
ENST00000699601.1:c.*2412T>A	ENSP00000514470.1:n.*2412T>A
ENST00000699602.1:c.4031T>A	ENSP00000514471.1:p.Leu1344Gln
ENST00000699604.1:c.*3861T>A	ENSP00000514472.1:n.*3861T>A
ENST00000699605.1:c.3611T>A	ENSP00000514473.1:p.Leu1204Gln
ENST00000699606.1:n.2205T>A
ENST00000685018.1:c.901T>A	ENSP00000510194.1:n.901T>A
ENST00000687278.1:c.1824T>A	ENSP00000509593.1:n.1824T>A
ENST00000689011.1:c.619T>A
ENST00000003084.11:c.4037T>A MANE Select	ENSP00000003084.6:p.Leu1346Gln
ENST00000647720.1:c.1487T>A
ENST00000649781.1:c.3854T>A	ENSP00000497203.1:p.Leu1285Gln
ENST00000003084.10:c.4037T>A	ENSP00000003084.6:p.Leu1346Gln
ENST00000426809.5:c.3947T>A	ENSP00000389119.1:p.Leu1316Gln
ENST00000600166.1:c.163T>A
NM_000492.3:c.4037T>A , LRG_663t1:c.4037T>A	NP_000483.3:p.Leu1346Gln
XM_011515751.1:c.4127T>A	XP_011514053.1:p.Leu1376Gln
XM_011515752.1:c.4127T>A	XP_011514054.1:p.Leu1376Gln
XM_011515753.1:c.3794T>A	XP_011514055.1:p.Leu1265Gln
XM_011515754.1:c.3794T>A	XP_011514056.1:p.Leu1265Gln
NM_000492.4:c.4037T>A MANE Select	NP_000483.3:p.Leu1346Gln