Canonical Allele Identifier: CA1139767764

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.[117509089C>T;117642528G>A] , CM000669.2:g.[117509089C>T;117642528G>A]	GRCh38
NC_000007.13:g.[117149143C>T;117282582G>A] , CM000669.1:g.[117149143C>T;117282582G>A]	GRCh37
NC_000007.12:g.[116936379C>T;117069818G>A]	NCBI36
NG_016465.4:g.[48306C>T;181745G>A] , LRG_663:g.[48306C>T;181745G>A]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.[220C>T;*17G>A]	ENSP00000497673.2:[p.Arg74Trp;n.*17G>A]
ENST00000647978.2:c.[*117C>T;*3522G>A]	ENSP00000497658.1:n.[*117C>T;*3522G>A]
ENST00000649781.2:c.[220C>T;3625G>A]	ENSP00000497203.1:p.[Arg74Trp;Asp1209Asn]
ENST00000685018.2:c.[220C>T;3808G>A]	ENSP00000510194.2:p.[Arg74Trp;Asp1270Asn]
ENST00000687278.2:c.[220C>T;*461G>A]	ENSP00000509593.2:[p.Arg74Trp;n.*461G>A]
ENST00000699585.1:c.[220C>T;*17G>A]	ENSP00000514456.1:[p.Arg74Trp;n.*17G>A]
ENST00000699598.1:c.[220C>T;3808G>A]	ENSP00000514467.1:p.[Arg74Trp;Asp1270Asn]
ENST00000699599.1:c.[220C>T;3808G>A]	ENSP00000514468.1:p.[Arg74Trp;Asp1270Asn]
ENST00000699600.1:c.[220C>T;*469G>A]	ENSP00000514469.1:[p.Arg74Trp;n.*469G>A]
ENST00000699601.1:c.[220C>T;*2183G>A]	ENSP00000514470.1:[p.Arg74Trp;n.*2183G>A]
ENST00000699602.1:c.[220C>T;3802G>A]	ENSP00000514471.1:p.[Arg74Trp;Asp1268Asn]
ENST00000699604.1:c.[*44C>T;*3632G>A]	ENSP00000514472.1:n.[*44C>T;*3632G>A]
ENST00000699605.1:c.[-24C>T;3382G>A]	ENSP00000514473.1:p.Asp1128Asn
ENST00000003084.11:c.[220C>T;3808G>A] MANE Select	ENSP00000003084.6:p.[Arg74Trp;Asp1270Asn]
ENST00000649781.1:c.[220C>T;3625G>A]	ENSP00000497203.1:p.[Arg74Trp;Asp1209Asn]
ENST00000003084.10:c.[220C>T;3808G>A]	ENSP00000003084.6:p.[Arg74Trp;Asp1270Asn]
ENST00000426809.5:c.[220C>T;3718G>A]	ENSP00000389119.1:p.[Arg74Trp;Asp1240Asn]
NM_000492.3:c.[220C>T;3808G>A] , LRG_663t1:c.[220C>T;3808G>A]	NP_000483.3:p.[Arg74Trp;Asp1270Asn]
XM_011515751.1:c.[310C>T;3898G>A]	XP_011514053.1:p.[Arg104Trp;Asp1300Asn]
XM_011515752.1:c.[310C>T;3898G>A]	XP_011514054.1:p.[Arg104Trp;Asp1300Asn]
XM_011515753.1:c.[-24C>T;3565G>A]	XP_011514055.1:p.Asp1189Asn
XM_011515754.1:c.[-24C>T;3565G>A]	XP_011514056.1:p.Asp1189Asn
NM_000492.4:c.[220C>T;3808G>A] MANE Select	NP_000483.3:p.[Arg74Trp;Asp1270Asn]