Canonical Allele Identifier: CA457230066

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1626743
• ClinVar RCV Id: RCV002120567
• dbSNP Id: rs936512397
• gnomAD v4: 7-117611729-G-T
• MyVariant Identifiers: chr7:g.117251783G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611729G>T , CM000669.2:g.117611729G>T	GRCh38
NC_000007.13:g.117251783G>T , CM000669.1:g.117251783G>T	GRCh37
NC_000007.12:g.117039019G>T	NCBI36
NG_016465.4:g.150946G>T , LRG_663:g.150946G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3288G>T	ENSP00000497673.2:p.Leu1096=
ENST00000647978.2:c.*3002G>T	ENSP00000497658.1:n.*3002G>T
ENST00000649781.2:c.3105G>T	ENSP00000497203.1:p.Leu1035=
ENST00000685018.2:c.3288G>T	ENSP00000510194.2:p.Leu1096=
ENST00000687278.2:c.3288G>T	ENSP00000509593.2:p.Leu1096=
ENST00000699585.1:c.3288G>T	ENSP00000514456.1:p.Leu1096=
ENST00000699598.1:c.3288G>T	ENSP00000514467.1:p.Leu1096=
ENST00000699599.1:c.3288G>T	ENSP00000514468.1:p.Leu1096=
ENST00000699600.1:c.3288G>T	ENSP00000514469.1:p.Leu1096=
ENST00000699601.1:c.*1588G>T	ENSP00000514470.1:n.*1588G>T
ENST00000699602.1:c.3288G>T	ENSP00000514471.1:p.Leu1096=
ENST00000699604.1:c.*3112G>T	ENSP00000514472.1:n.*3112G>T
ENST00000699605.1:c.2862G>T	ENSP00000514473.1:p.Leu954=
ENST00000685018.1:c.36G>T	ENSP00000510194.1:p.Leu12=
ENST00000687278.1:c.879G>T	ENSP00000509593.1:p.Leu293=
ENST00000003084.11:c.3288G>T MANE Select	ENSP00000003084.6:p.Leu1096=
ENST00000647720.1:c.938G>T
ENST00000648260.1:c.2070G>T	ENSP00000497957.1:p.Leu690=
ENST00000649406.1:c.3105G>T	ENSP00000497965.1:p.Leu1035=
ENST00000649781.1:c.3105G>T	ENSP00000497203.1:p.Leu1035=
ENST00000003084.10:c.3288G>T	ENSP00000003084.6:p.Leu1096=
ENST00000426809.5:c.3198G>T	ENSP00000389119.1:p.Leu1066=
ENST00000468795.1:c.113G>T
NM_000492.3:c.3288G>T , LRG_663t1:c.3288G>T	NP_000483.3:p.Leu1096=
XM_011515751.1:c.3378G>T	XP_011514053.1:p.Leu1126=
XM_011515752.1:c.3378G>T	XP_011514054.1:p.Leu1126=
XM_011515753.1:c.3045G>T	XP_011514055.1:p.Leu1015=
XM_011515754.1:c.3045G>T	XP_011514056.1:p.Leu1015=
NM_000492.4:c.3288G>T MANE Select	NP_000483.3:p.Leu1096=