Canonical Allele Identifier: CA913203342

Gene: CFTR

Linked Data

• ClinVar Variation Id: 634837
• ClinVar RCV Id: RCV000785641

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.[117559592_117559594del;117610610T>C] , CM000669.2:g.[117559592_117559594del;117610610T>C]	GRCh38
NC_000007.13:g.[117199646_117199648del;117250664T>C] , CM000669.1:g.[117199646_117199648del;117250664T>C]	GRCh37
NC_000007.12:g.[116986882_116986884del;117037900T>C]	NCBI36
NG_016465.4:g.[98809_98811del;149827T>C] , LRG_663:g.[98809_98811del;149827T>C]

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.[1521_1523del;3080T>C]	ENSP00000497673.2:p.[Phe508del;Ile1027Thr...
ENST00000647978.2:c.[*1235_*1237del;*2794T>C]	ENSP00000497658.1:n.[*1235_*1237del;*2794...
ENST00000649781.2:c.[1338_1340del;2897T>C]	ENSP00000497203.1:p.[Phe447del;Ile966Thr]...
ENST00000685018.2:c.[1521_1523del;3080T>C]	ENSP00000510194.2:p.[Phe508del;Ile1027Thr...
ENST00000687278.2:c.[1521_1523del;3080T>C]	ENSP00000509593.2:p.[Phe508del;Ile1027Thr...
ENST00000699585.1:c.[1521_1523del;3080T>C]	ENSP00000514456.1:p.[Phe508del;Ile1027Thr...
ENST00000699598.1:c.[1521_1523del;3080T>C]	ENSP00000514467.1:p.[Phe508del;Ile1027Thr...
ENST00000699599.1:c.[1521_1523del;3080T>C]	ENSP00000514468.1:p.[Phe508del;Ile1027Thr...
ENST00000699600.1:c.[1521_1523del;3080T>C]	ENSP00000514469.1:p.[Phe508del;Ile1027Thr...
ENST00000699601.1:c.[1521_1523del;*1380T>C]	ENSP00000514470.1:[p.Phe508del;n.*1380T>C...
ENST00000699602.1:c.[1521_1523del;3080T>C]	ENSP00000514471.1:p.[Phe508del;Ile1027Thr...
ENST00000699604.1:c.[*1345_*1347del;*2904T>C]	ENSP00000514472.1:n.[*1345_*1347del;*2904...
ENST00000699605.1:c.[1095_1097del;2654T>C]	ENSP00000514473.1:p.[Phe366del;Ile885Thr]...
ENST00000003084.11:c.[1521_1523del;3080T>C] MANE Select	ENSP00000003084.6:p.[Phe508del;Ile1027Thr...
ENST00000648260.1:c.[1338_1340del;1862T>C]	ENSP00000497957.1:p.[Phe447del;Ile621Thr]...
ENST00000649406.1:c.[1338_1340del;2897T>C]	ENSP00000497965.1:p.[Phe447del;Ile966Thr]...
ENST00000649781.1:c.[1338_1340del;2897T>C]	ENSP00000497203.1:p.[Phe447del;Ile966Thr]...
ENST00000003084.10:c.[1521_1523del;3080T>C]	ENSP00000003084.6:p.[Phe508del;Ile1027Thr...
ENST00000426809.5:c.[1431_1433del;2990T>C]	ENSP00000389119.1:p.[Phe478del;Ile997Thr]...
NM_000492.3:c.[1521_1523del;3080T>C] , LRG_663t1:c.[1521_1523del;3080T>C]	NP_000483.3:p.[Phe508del;Ile1027Thr]
XM_011515751.1:c.[1611_1613del;3170T>C]	XP_011514053.1:p.[Phe538del;Ile1057Thr]
XM_011515752.1:c.[1611_1613del;3170T>C]	XP_011514054.1:p.[Phe538del;Ile1057Thr]
XM_011515753.1:c.[1278_1280del;2837T>C]	XP_011514055.1:p.[Phe427del;Ile946Thr]
XM_011515754.1:c.[1278_1280del;2837T>C]	XP_011514056.1:p.[Phe427del;Ile946Thr]
NM_000492.4:c.[1521_1523del;3080T>C] MANE Select	NP_000483.3:p.[Phe508del;Ile1027Thr]