Canonical Allele Identifier: CA2580076458

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2188059
• ClinVar RCV Id: RCV002616239

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117540242_117540243del , CM000669.2:g.117540242_117540243del	GRCh38
NC_000007.13:g.117180296_117180297del , CM000669.1:g.117180296_117180297del	GRCh37
NC_000007.12:g.116967532_116967533del	NCBI36
NG_016465.4:g.79459_79460del , LRG_663:g.79459_79460del

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1012_1013del	ENSP00000497673.2:p.Thr338HisfsTer25
ENST00000647978.2:c.*909_*910del	ENSP00000497658.1:n.*909_*910del
ENST00000649781.2:c.1012_1013del	ENSP00000497203.1:p.Thr338HisfsTer25
ENST00000685018.2:c.1012_1013del	ENSP00000510194.2:p.Thr338HisfsTer25
ENST00000687278.2:c.1012_1013del	ENSP00000509593.2:p.Thr338HisfsTer25
ENST00000699585.1:c.1012_1013del	ENSP00000514456.1:p.Thr338HisfsTer25
ENST00000699596.1:c.1012_1013del	ENSP00000514465.1:p.Thr338HisfsTer25
ENST00000699597.1:c.1012_1013del	ENSP00000514466.1:p.Thr338HisfsTer25
ENST00000699598.1:c.1012_1013del	ENSP00000514467.1:p.Thr338HisfsTer25
ENST00000699599.1:c.1012_1013del	ENSP00000514468.1:p.Thr338HisfsTer25
ENST00000699600.1:c.1012_1013del	ENSP00000514469.1:p.Thr338HisfsTer25
ENST00000699601.1:c.1012_1013del	ENSP00000514470.1:p.Thr338HisfsTer25
ENST00000699602.1:c.1012_1013del	ENSP00000514471.1:p.Thr338HisfsTer25
ENST00000699604.1:c.*836_*837del	ENSP00000514472.1:n.*836_*837del
ENST00000699605.1:c.769_770del	ENSP00000514473.1:p.Thr257HisfsTer25
ENST00000003084.11:c.1012_1013del MANE Select	ENSP00000003084.6:p.Thr338HisfsTer25
ENST00000647978.1:c.*909_*910del	ENSP00000497658.1:n.*909_*910del
ENST00000648260.1:c.1012_1013del	ENSP00000497957.1:p.Thr338HisfsTer25
ENST00000649406.1:c.1012_1013del	ENSP00000497965.1:p.Thr338HisfsTer25
ENST00000649781.1:c.1012_1013del	ENSP00000497203.1:p.Thr338HisfsTer25
ENST00000673785.1:c.769_770del	ENSP00000501235.1:p.Thr257HisfsTer25
ENST00000003084.10:c.1012_1013del	ENSP00000003084.6:p.Thr338HisfsTer25
ENST00000426809.5:c.922_923del	ENSP00000389119.1:p.Thr308HisfsTer25
NM_000492.3:c.1012_1013del , LRG_663t1:c.1012_1013del	NP_000483.3:p.Thr338HisfsTer25
XM_011515751.1:c.1102_1103del	XP_011514053.1:p.Thr368HisfsTer25
XM_011515752.1:c.1102_1103del	XP_011514054.1:p.Thr368HisfsTer25
XM_011515753.1:c.769_770del	XP_011514055.1:p.Thr257HisfsTer25
XM_011515754.1:c.769_770del	XP_011514056.1:p.Thr257HisfsTer25
NM_000492.4:c.1012_1013del MANE Select	NP_000483.3:p.Thr338HisfsTer25