Canonical Allele Identifier: CA1737335186

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117504343T= , CM000669.2:g.117504343T=	GRCh38
NC_000007.13:g.117144397T= , CM000669.1:g.117144397T=	GRCh37
NC_000007.12:g.116931633T=	NCBI36
NG_016465.4:g.43560T= , LRG_663:g.43560T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.144T=	ENSP00000497673.2:p.Asn48=
ENST00000647978.2:c.144T=	ENSP00000497658.1:p.Asn48=
ENST00000649781.2:c.144T=	ENSP00000497203.1:p.Asn48=
ENST00000649850.2:c.144T=	ENSP00000514457.1:p.Asn48=
ENST00000685018.2:c.144T=	ENSP00000510194.2:p.Asn48=
ENST00000687278.2:c.144T=	ENSP00000509593.2:p.Asn48=
ENST00000693465.2:n.229T=
ENST00000699585.1:c.144T=	ENSP00000514456.1:p.Asn48=
ENST00000699596.1:c.144T=	ENSP00000514465.1:p.Asn48=
ENST00000699597.1:c.144T=	ENSP00000514466.1:p.Asn48=
ENST00000699598.1:c.144T=	ENSP00000514467.1:p.Asn48=
ENST00000699599.1:c.144T=	ENSP00000514468.1:p.Asn48=
ENST00000699600.1:c.144T=	ENSP00000514469.1:p.Asn48=
ENST00000699601.1:c.144T=	ENSP00000514470.1:p.Asn48=
ENST00000699602.1:c.144T=	ENSP00000514471.1:p.Asn48=
ENST00000699604.1:c.144T=	ENSP00000514472.1:p.Asn48=
ENST00000699605.1:c.-100T=	ENSP00000514473.1:n.-100T=
ENST00000446805.2:c.-100T=	ENSP00000417012.1:n.-100T=
ENST00000693465.1:n.214T=
ENST00000003084.11:c.144T= MANE Select	ENSP00000003084.6:p.Asn48=
ENST00000647639.1:n.228T=
ENST00000647978.1:c.144T=	ENSP00000497658.1:p.Asn48=
ENST00000648260.1:c.144T=	ENSP00000497957.1:p.Asn48=
ENST00000649406.1:c.144T=	ENSP00000497965.1:p.Asn48=
ENST00000649781.1:c.144T=	ENSP00000497203.1:p.Asn48=
ENST00000649850.1:n.227T=
ENST00000673785.1:c.-100T=	ENSP00000501235.1:n.-100T=
ENST00000003084.10:c.144T=	ENSP00000003084.6:p.Asn48=
ENST00000426809.5:c.144T=	ENSP00000389119.1:p.Asn48=
ENST00000446805.1:c.-100T=	ENSP00000417012.1:n.-100T=
NM_000492.3:c.144T= , LRG_663t1:c.144T=	NP_000483.3:p.Asn48=
XM_011515751.1:c.234T=	XP_011514053.1:p.Asn78=
XM_011515752.1:c.234T=	XP_011514054.1:p.Asn78=
XM_011515753.1:c.-100T=	XP_011514055.1:n.-100T=
XM_011515754.1:c.-174T=	XP_011514056.1:n.-174T=
NM_000492.4:c.144T= MANE Select	NP_000483.3:p.Asn48=