Canonical Allele Identifier: CA4451513

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627725T>A , CM000669.2:g.117627725T>A	GRCh38
NC_000007.13:g.117267779T>A , CM000669.1:g.117267779T>A	GRCh37
NC_000007.12:g.117055015T>A	NCBI36
NG_016465.4:g.166942T>A , LRG_663:g.166942T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3672T>A MANE Select	NP_000483.3:p.Asn1224Lys
ENST00000003084.11:c.3672T>A MANE Select	ENSP00000003084.6:p.Asn1224Lys
NM_000492.3:c.3672T>A , LRG_663t1:c.3672T>A	NP_000483.3:p.Asn1224Lys
ENST00000003084.10:c.3672T>A	ENSP00000003084.6:p.Asn1224Lys
ENST00000426809.5:c.3582T>A	ENSP00000389119.1:p.Asn1194Lys
ENST00000468795.1:c.497T>A
ENST00000647720.1:c.1167+155T>A
ENST00000647720.2:c.3517+155T>A	ENSP00000497673.2:n.3517+155T>A
ENST00000647978.2:c.*3386T>A	ENSP00000497658.1:n.*3386T>A
ENST00000648260.1:c.2454T>A	ENSP00000497957.1:p.Asn818Lys
ENST00000649406.1:c.3489T>A	ENSP00000497965.1:p.Asn1163Lys
ENST00000649781.1:c.3489T>A	ENSP00000497203.1:p.Asn1163Lys
ENST00000649781.2:c.3489T>A	ENSP00000497203.1:p.Asn1163Lys
ENST00000685018.1:c.420T>A	ENSP00000510194.1:p.Asn140Lys
ENST00000685018.2:c.3672T>A	ENSP00000510194.2:p.Asn1224Lys
ENST00000687278.1:c.1459T>A	ENSP00000509593.1:n.1459T>A
ENST00000687278.2:c.*325T>A	ENSP00000509593.2:n.*325T>A
ENST00000689011.1:c.254T>A
ENST00000699585.1:c.3517+155T>A	ENSP00000514456.1:n.3517+155T>A
ENST00000699598.1:c.3672T>A	ENSP00000514467.1:p.Asn1224Lys
ENST00000699599.1:c.3672T>A	ENSP00000514468.1:p.Asn1224Lys
ENST00000699600.1:c.*333T>A	ENSP00000514469.1:n.*333T>A
ENST00000699601.1:c.*2047T>A	ENSP00000514470.1:n.*2047T>A
ENST00000699602.1:c.3666T>A	ENSP00000514471.1:p.Asn1222Lys
ENST00000699604.1:c.*3496T>A	ENSP00000514472.1:n.*3496T>A
ENST00000699605.1:c.3246T>A	ENSP00000514473.1:p.Asn1082Lys
XM_011515751.1:c.3762T>A	XP_011514053.1:p.Asn1254Lys
XM_011515752.1:c.3762T>A	XP_011514054.1:p.Asn1254Lys
XM_011515753.1:c.3429T>A	XP_011514055.1:p.Asn1143Lys
XM_011515754.1:c.3429T>A	XP_011514056.1:p.Asn1143Lys