Canonical Allele Identifier: CA368996349

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627600A>T , CM000669.2:g.117627600A>T	GRCh38
NC_000007.13:g.117267654A>T , CM000669.1:g.117267654A>T	GRCh37
NC_000007.12:g.117054890A>T	NCBI36
NG_016465.4:g.166817A>T , LRG_663:g.166817A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3547A>T MANE Select	NP_000483.3:p.Lys1183Ter
ENST00000003084.11:c.3547A>T MANE Select	ENSP00000003084.6:p.Lys1183Ter
NM_000492.3:c.3547A>T , LRG_663t1:c.3547A>T	NP_000483.3:p.Lys1183Ter
ENST00000003084.10:c.3547A>T	ENSP00000003084.6:p.Lys1183Ter
ENST00000426809.5:c.3457A>T	ENSP00000389119.1:p.Lys1153Ter
ENST00000468795.1:c.372A>T
ENST00000647720.1:c.1167+30A>T
ENST00000647720.2:c.3517+30A>T	ENSP00000497673.2:n.3517+30A>T
ENST00000647978.2:c.*3261A>T	ENSP00000497658.1:n.*3261A>T
ENST00000648260.1:c.2329A>T	ENSP00000497957.1:p.Lys777Ter
ENST00000649406.1:c.3364A>T	ENSP00000497965.1:p.Lys1122Ter
ENST00000649781.1:c.3364A>T	ENSP00000497203.1:p.Lys1122Ter
ENST00000649781.2:c.3364A>T	ENSP00000497203.1:p.Lys1122Ter
ENST00000685018.1:c.295A>T	ENSP00000510194.1:p.Lys99Ter
ENST00000685018.2:c.3547A>T	ENSP00000510194.2:p.Lys1183Ter
ENST00000687278.1:c.1334A>T	ENSP00000509593.1:n.1334A>T
ENST00000687278.2:c.*200A>T	ENSP00000509593.2:n.*200A>T
ENST00000689011.1:c.129A>T
ENST00000699585.1:c.3517+30A>T	ENSP00000514456.1:n.3517+30A>T
ENST00000699598.1:c.3547A>T	ENSP00000514467.1:p.Lys1183Ter
ENST00000699599.1:c.3547A>T	ENSP00000514468.1:p.Lys1183Ter
ENST00000699600.1:c.*208A>T	ENSP00000514469.1:n.*208A>T
ENST00000699601.1:c.*1922A>T	ENSP00000514470.1:n.*1922A>T
ENST00000699602.1:c.3541A>T	ENSP00000514471.1:p.Lys1181Ter
ENST00000699604.1:c.*3371A>T	ENSP00000514472.1:n.*3371A>T
ENST00000699605.1:c.3121A>T	ENSP00000514473.1:p.Lys1041Ter
XM_011515751.1:c.3637A>T	XP_011514053.1:p.Lys1213Ter
XM_011515752.1:c.3637A>T	XP_011514054.1:p.Lys1213Ter
XM_011515753.1:c.3304A>T	XP_011514055.1:p.Lys1102Ter
XM_011515754.1:c.3304A>T	XP_011514056.1:p.Lys1102Ter