Canonical Allele Identifier: CA2573102335

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1300167
• ClinVar RCV Id: RCV001731144

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.[117559594T>G;117642472G>A] , CM000669.2:g.[117559594T>G;117642472G>A]	GRCh38
NC_000007.13:g.[117199648T>G;117282526G>A] , CM000669.1:g.[117199648T>G;117282526G>A]	GRCh37
NC_000007.12:g.[116986884T>G;117069762G>A]	NCBI36
NG_016465.4:g.[98811T>G;181689G>A] , LRG_663:g.[98811T>G;181689G>A]

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.[1523T>G;3552G>A]	ENSP00000497673.2:p.[Phe508Cys;Glu1184=]
ENST00000647978.2:c.[*1237T>G;*3466G>A]	ENSP00000497658.1:n.[*1237T>G;*3466G>A]
ENST00000649781.2:c.[1340T>G;3569G>A]	ENSP00000497203.1:p.[Phe447Cys;Ser1190Asn...
ENST00000685018.2:c.[1523T>G;3752G>A]	ENSP00000510194.2:p.[Phe508Cys;Ser1251Asn...
ENST00000687278.2:c.[1523T>G;*405G>A]	ENSP00000509593.2:[p.Phe508Cys;n.*405G>A]...
ENST00000699585.1:c.[1523T>G;3552G>A]	ENSP00000514456.1:p.[Phe508Cys;Glu1184=]
ENST00000699598.1:c.[1523T>G;3752G>A]	ENSP00000514467.1:p.[Phe508Cys;Ser1251Asn...
ENST00000699599.1:c.[1523T>G;3752G>A]	ENSP00000514468.1:p.[Phe508Cys;Ser1251Asn...
ENST00000699600.1:c.[1523T>G;*413G>A]	ENSP00000514469.1:[p.Phe508Cys;n.*413G>A]...
ENST00000699601.1:c.[1523T>G;*2127G>A]	ENSP00000514470.1:[p.Phe508Cys;n.*2127G>A...
ENST00000699602.1:c.[1523T>G;3746G>A]	ENSP00000514471.1:p.[Phe508Cys;Ser1249Asn...
ENST00000699604.1:c.[*1347T>G;*3576G>A]	ENSP00000514472.1:n.[*1347T>G;*3576G>A]
ENST00000699605.1:c.[1097T>G;3326G>A]	ENSP00000514473.1:p.[Phe366Cys;Ser1109Asn...
ENST00000003084.11:c.[1523T>G;3752G>A] MANE Select	ENSP00000003084.6:p.[Phe508Cys;Ser1251Asn...
ENST00000649781.1:c.[1340T>G;3569G>A]	ENSP00000497203.1:p.[Phe447Cys;Ser1190Asn...
ENST00000003084.10:c.[1523T>G;3752G>A]	ENSP00000003084.6:p.[Phe508Cys;Ser1251Asn...
ENST00000426809.5:c.[1433T>G;3662G>A]	ENSP00000389119.1:p.[Phe478Cys;Ser1221Asn...
NM_000492.3:c.[1523T>G;3752G>A] , LRG_663t1:c.[1523T>G;3752G>A]	NP_000483.3:p.[Phe508Cys;Ser1251Asn]
XM_011515751.1:c.[1613T>G;3842G>A]	XP_011514053.1:p.[Phe538Cys;Ser1281Asn]
XM_011515752.1:c.[1613T>G;3842G>A]	XP_011514054.1:p.[Phe538Cys;Ser1281Asn]
XM_011515753.1:c.[1280T>G;3509G>A]	XP_011514055.1:p.[Phe427Cys;Ser1170Asn]
XM_011515754.1:c.[1280T>G;3509G>A]	XP_011514056.1:p.[Phe427Cys;Ser1170Asn]
NM_000492.4:c.[1523T>G;3752G>A] MANE Select	NP_000483.3:p.[Phe508Cys;Ser1251Asn]