Canonical Allele Identifier: CA1737387528

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611755T= , CM000669.2:g.117611755T=	GRCh38
NC_000007.13:g.117251809T= , CM000669.1:g.117251809T=	GRCh37
NC_000007.12:g.117039045T=	NCBI36
NG_016465.4:g.150972T= , LRG_663:g.150972T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3314T=	ENSP00000497673.2:p.Met1105=
ENST00000647978.2:c.*3028T=	ENSP00000497658.1:n.*3028T=
ENST00000649781.2:c.3131T=	ENSP00000497203.1:p.Met1044=
ENST00000685018.2:c.3314T=	ENSP00000510194.2:p.Met1105=
ENST00000687278.2:c.3314T=	ENSP00000509593.2:p.Met1105=
ENST00000699585.1:c.3314T=	ENSP00000514456.1:p.Met1105=
ENST00000699598.1:c.3314T=	ENSP00000514467.1:p.Met1105=
ENST00000699599.1:c.3314T=	ENSP00000514468.1:p.Met1105=
ENST00000699600.1:c.3314T=	ENSP00000514469.1:p.Met1105=
ENST00000699601.1:c.*1614T=	ENSP00000514470.1:n.*1614T=
ENST00000699602.1:c.3314T=	ENSP00000514471.1:p.Met1105=
ENST00000699604.1:c.*3138T=	ENSP00000514472.1:n.*3138T=
ENST00000699605.1:c.2888T=	ENSP00000514473.1:p.Met963=
ENST00000685018.1:c.62T=	ENSP00000510194.1:p.Met21=
ENST00000687278.1:c.905T=	ENSP00000509593.1:p.Met302=
ENST00000003084.11:c.3314T= MANE Select	ENSP00000003084.6:p.Met1105=
ENST00000647720.1:c.964T=
ENST00000648260.1:c.2096T=	ENSP00000497957.1:p.Met699=
ENST00000649406.1:c.3131T=	ENSP00000497965.1:p.Met1044=
ENST00000649781.1:c.3131T=	ENSP00000497203.1:p.Met1044=
ENST00000003084.10:c.3314T=	ENSP00000003084.6:p.Met1105=
ENST00000426809.5:c.3224T=	ENSP00000389119.1:p.Met1075=
ENST00000468795.1:c.139T=
NM_000492.3:c.3314T= , LRG_663t1:c.3314T=	NP_000483.3:p.Met1105=
XM_011515751.1:c.3404T=	XP_011514053.1:p.Met1135=
XM_011515752.1:c.3404T=	XP_011514054.1:p.Met1135=
XM_011515753.1:c.3071T=	XP_011514055.1:p.Met1024=
XM_011515754.1:c.3071T=	XP_011514056.1:p.Met1024=
NM_000492.4:c.3314T= MANE Select	NP_000483.3:p.Met1105=