Canonical Allele Identifier: CA457231472

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627740C>T , CM000669.2:g.117627740C>T	GRCh38
NC_000007.13:g.117267794C>T , CM000669.1:g.117267794C>T	GRCh37
NC_000007.12:g.117055030C>T	NCBI36
NG_016465.4:g.166957C>T , LRG_663:g.166957C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3687C>T MANE Select	NP_000483.3:p.Asn1229=
ENST00000003084.11:c.3687C>T MANE Select	ENSP00000003084.6:p.Asn1229=
NM_000492.3:c.3687C>T , LRG_663t1:c.3687C>T	NP_000483.3:p.Asn1229=
ENST00000003084.10:c.3687C>T	ENSP00000003084.6:p.Asn1229=
ENST00000426809.5:c.3597C>T	ENSP00000389119.1:p.Asn1199=
ENST00000468795.1:c.512C>T
ENST00000647720.1:c.1167+170C>T
ENST00000647720.2:c.3517+170C>T	ENSP00000497673.2:n.3517+170C>T
ENST00000647978.2:c.*3401C>T	ENSP00000497658.1:n.*3401C>T
ENST00000648260.1:c.2469C>T	ENSP00000497957.1:p.Asn823=
ENST00000649406.1:c.3504C>T	ENSP00000497965.1:p.Asn1168=
ENST00000649781.1:c.3504C>T	ENSP00000497203.1:p.Asn1168=
ENST00000649781.2:c.3504C>T	ENSP00000497203.1:p.Asn1168=
ENST00000685018.1:c.435C>T	ENSP00000510194.1:p.Asn145=
ENST00000685018.2:c.3687C>T	ENSP00000510194.2:p.Asn1229=
ENST00000687278.1:c.1474C>T	ENSP00000509593.1:n.1474C>T
ENST00000687278.2:c.*340C>T	ENSP00000509593.2:n.*340C>T
ENST00000689011.1:c.269C>T
ENST00000699585.1:c.3517+170C>T	ENSP00000514456.1:n.3517+170C>T
ENST00000699598.1:c.3687C>T	ENSP00000514467.1:p.Asn1229=
ENST00000699599.1:c.3687C>T	ENSP00000514468.1:p.Asn1229=
ENST00000699600.1:c.*348C>T	ENSP00000514469.1:n.*348C>T
ENST00000699601.1:c.*2062C>T	ENSP00000514470.1:n.*2062C>T
ENST00000699602.1:c.3681C>T	ENSP00000514471.1:p.Asn1227=
ENST00000699604.1:c.*3511C>T	ENSP00000514472.1:n.*3511C>T
ENST00000699605.1:c.3261C>T	ENSP00000514473.1:p.Asn1087=
XM_011515751.1:c.3777C>T	XP_011514053.1:p.Asn1259=
XM_011515752.1:c.3777C>T	XP_011514054.1:p.Asn1259=
XM_011515753.1:c.3444C>T	XP_011514055.1:p.Asn1148=
XM_011515754.1:c.3444C>T	XP_011514056.1:p.Asn1148=