Canonical Allele Identifier: CA4451269

Gene: CFTR

Linked Data

• ClinVar Variation Id: 597851
• ClinVar RCV Id: RCV000734095 ; RCV002440580
• dbSNP Id: rs61738523
• ExAC: 7:117243593 C / T
• gnomAD v2: 7-117243593-C-T
• gnomAD v3: 7-117603539-C-T
• gnomAD v4: 7-117603539-C-T
• MyVariant Identifiers: chr7:g.117243593C>T (hg19) ; chr7:g.117603539C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603539C>T , CM000669.2:g.117603539C>T	GRCh38
NC_000007.13:g.117243593C>T , CM000669.1:g.117243593C>T	GRCh37
NC_000007.12:g.117030829C>T	NCBI36
NG_016465.4:g.142756C>T , LRG_663:g.142756C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2665C>T	ENSP00000497673.2:p.Leu889Phe
ENST00000647978.2:c.*2379C>T	ENSP00000497658.1:n.*2379C>T
ENST00000649781.2:c.2482C>T	ENSP00000497203.1:p.Leu828Phe
ENST00000685018.2:c.2665C>T	ENSP00000510194.2:p.Leu889Phe
ENST00000687278.2:c.2665C>T	ENSP00000509593.2:p.Leu889Phe
ENST00000699585.1:c.2665C>T	ENSP00000514456.1:p.Leu889Phe
ENST00000699598.1:c.2665C>T	ENSP00000514467.1:p.Leu889Phe
ENST00000699599.1:c.2665C>T	ENSP00000514468.1:p.Leu889Phe
ENST00000699600.1:c.2665C>T	ENSP00000514469.1:p.Leu889Phe
ENST00000699601.1:c.*965C>T	ENSP00000514470.1:n.*965C>T
ENST00000699602.1:c.2665C>T	ENSP00000514471.1:p.Leu889Phe
ENST00000699604.1:c.*2489C>T	ENSP00000514472.1:n.*2489C>T
ENST00000699605.1:c.2239C>T	ENSP00000514473.1:p.Leu747Phe
ENST00000687278.1:c.256C>T	ENSP00000509593.1:p.Leu86Phe
ENST00000003084.11:c.2665C>T MANE Select	ENSP00000003084.6:p.Leu889Phe
ENST00000647720.1:c.315C>T
ENST00000648260.1:c.1447C>T	ENSP00000497957.1:p.Leu483Phe
ENST00000649406.1:c.2482C>T	ENSP00000497965.1:p.Leu828Phe
ENST00000649781.1:c.2482C>T	ENSP00000497203.1:p.Leu828Phe
ENST00000003084.10:c.2665C>T	ENSP00000003084.6:p.Leu889Phe
ENST00000426809.5:c.2575C>T	ENSP00000389119.1:p.Leu859Phe
NM_000492.3:c.2665C>T , LRG_663t1:c.2665C>T	NP_000483.3:p.Leu889Phe
XM_011515751.1:c.2755C>T	XP_011514053.1:p.Leu919Phe
XM_011515752.1:c.2755C>T	XP_011514054.1:p.Leu919Phe
XM_011515753.1:c.2422C>T	XP_011514055.1:p.Leu808Phe
XM_011515754.1:c.2422C>T	XP_011514056.1:p.Leu808Phe
NM_000492.4:c.2665C>T MANE Select	NP_000483.3:p.Leu889Phe