Canonical Allele Identifier: CA4451287

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1163873
• ClinVar RCV Id: RCV001509325
• dbSNP Id: rs767910302
• ExAC: 7:117243706 G / T
• gnomAD v2: 7-117243706-G-T
• gnomAD v3: 7-117603652-G-T
• gnomAD v4: 7-117603652-G-T
• MyVariant Identifiers: chr7:g.117243706G>T (hg19) ; chr7:g.117603652G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117603652G>T , CM000669.2:g.117603652G>T	GRCh38
NC_000007.13:g.117243706G>T , CM000669.1:g.117243706G>T	GRCh37
NC_000007.12:g.117030942G>T	NCBI36
NG_016465.4:g.142869G>T , LRG_663:g.142869G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2778G>T	ENSP00000497673.2:p.Leu926Phe
ENST00000647978.2:c.*2492G>T	ENSP00000497658.1:n.*2492G>T
ENST00000649781.2:c.2595G>T	ENSP00000497203.1:p.Leu865Phe
ENST00000685018.2:c.2778G>T	ENSP00000510194.2:p.Leu926Phe
ENST00000687278.2:c.2778G>T	ENSP00000509593.2:p.Leu926Phe
ENST00000699585.1:c.2778G>T	ENSP00000514456.1:p.Leu926Phe
ENST00000699598.1:c.2778G>T	ENSP00000514467.1:p.Leu926Phe
ENST00000699599.1:c.2778G>T	ENSP00000514468.1:p.Leu926Phe
ENST00000699600.1:c.2778G>T	ENSP00000514469.1:p.Leu926Phe
ENST00000699601.1:c.*1078G>T	ENSP00000514470.1:n.*1078G>T
ENST00000699602.1:c.2778G>T	ENSP00000514471.1:p.Leu926Phe
ENST00000699604.1:c.*2602G>T	ENSP00000514472.1:n.*2602G>T
ENST00000699605.1:c.2352G>T	ENSP00000514473.1:p.Leu784Phe
ENST00000687278.1:c.369G>T	ENSP00000509593.1:p.Leu123Phe
ENST00000003084.11:c.2778G>T MANE Select	ENSP00000003084.6:p.Leu926Phe
ENST00000647720.1:c.428G>T
ENST00000648260.1:c.1560G>T	ENSP00000497957.1:p.Leu520Phe
ENST00000649406.1:c.2595G>T	ENSP00000497965.1:p.Leu865Phe
ENST00000649781.1:c.2595G>T	ENSP00000497203.1:p.Leu865Phe
ENST00000003084.10:c.2778G>T	ENSP00000003084.6:p.Leu926Phe
ENST00000426809.5:c.2688G>T	ENSP00000389119.1:p.Leu896Phe
NM_000492.3:c.2778G>T , LRG_663t1:c.2778G>T	NP_000483.3:p.Leu926Phe
XM_011515751.1:c.2868G>T	XP_011514053.1:p.Leu956Phe
XM_011515752.1:c.2868G>T	XP_011514054.1:p.Leu956Phe
XM_011515753.1:c.2535G>T	XP_011514055.1:p.Leu845Phe
XM_011515754.1:c.2535G>T	XP_011514056.1:p.Leu845Phe
NM_000492.4:c.2778G>T MANE Select	NP_000483.3:p.Leu926Phe