Canonical Allele Identifier: CA368990277

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1798552
• ClinVar RCV Id: RCV002435523
• MyVariant Identifiers: chr7:g.117250578A>T (hg19) ; chr7:g.117610524A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610524A>T , CM000669.2:g.117610524A>T	GRCh38
NC_000007.13:g.117250578A>T , CM000669.1:g.117250578A>T	GRCh37
NC_000007.12:g.117037814A>T	NCBI36
NG_016465.4:g.149741A>T , LRG_663:g.149741A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.2994A>T	ENSP00000497673.2:p.Leu998Phe
ENST00000647978.2:c.*2708A>T	ENSP00000497658.1:n.*2708A>T
ENST00000649781.2:c.2811A>T	ENSP00000497203.1:p.Leu937Phe
ENST00000685018.2:c.2994A>T	ENSP00000510194.2:p.Leu998Phe
ENST00000687278.2:c.2994A>T	ENSP00000509593.2:p.Leu998Phe
ENST00000699585.1:c.2994A>T	ENSP00000514456.1:p.Leu998Phe
ENST00000699598.1:c.2994A>T	ENSP00000514467.1:p.Leu998Phe
ENST00000699599.1:c.2994A>T	ENSP00000514468.1:p.Leu998Phe
ENST00000699600.1:c.2994A>T	ENSP00000514469.1:p.Leu998Phe
ENST00000699601.1:c.*1294A>T	ENSP00000514470.1:n.*1294A>T
ENST00000699602.1:c.2994A>T	ENSP00000514471.1:p.Leu998Phe
ENST00000699604.1:c.*2818A>T	ENSP00000514472.1:n.*2818A>T
ENST00000699605.1:c.2568A>T	ENSP00000514473.1:p.Leu856Phe
ENST00000687278.1:c.585A>T	ENSP00000509593.1:p.Leu195Phe
ENST00000003084.11:c.2994A>T MANE Select	ENSP00000003084.6:p.Leu998Phe
ENST00000647720.1:c.644A>T
ENST00000648260.1:c.1776A>T	ENSP00000497957.1:p.Leu592Phe
ENST00000649406.1:c.2811A>T	ENSP00000497965.1:p.Leu937Phe
ENST00000649781.1:c.2811A>T	ENSP00000497203.1:p.Leu937Phe
ENST00000003084.10:c.2994A>T	ENSP00000003084.6:p.Leu998Phe
ENST00000426809.5:c.2904A>T	ENSP00000389119.1:p.Leu968Phe
NM_000492.3:c.2994A>T , LRG_663t1:c.2994A>T	NP_000483.3:p.Leu998Phe
XM_011515751.1:c.3084A>T	XP_011514053.1:p.Leu1028Phe
XM_011515752.1:c.3084A>T	XP_011514054.1:p.Leu1028Phe
XM_011515753.1:c.2751A>T	XP_011514055.1:p.Leu917Phe
XM_011515754.1:c.2751A>T	XP_011514056.1:p.Leu917Phe
NM_000492.4:c.2994A>T MANE Select	NP_000483.3:p.Leu998Phe