Canonical Allele Identifier: CA327101

Gene: CFTR

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611652C>T , CM000669.2:g.117611652C>T	GRCh38
NC_000007.13:g.117251706C>T , CM000669.1:g.117251706C>T	GRCh37
NC_000007.12:g.117038942C>T	NCBI36
NG_016465.4:g.150869C>T , LRG_663:g.150869C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000492.4:c.3211C>T MANE Select	NP_000483.3:p.Gln1071Ter
ENST00000003084.11:c.3211C>T MANE Select	ENSP00000003084.6:p.Gln1071Ter
NM_000492.3:c.3211C>T , LRG_663t1:c.3211C>T	NP_000483.3:p.Gln1071Ter
ENST00000003084.10:c.3211C>T	ENSP00000003084.6:p.Gln1071Ter
ENST00000426809.5:c.3121C>T	ENSP00000389119.1:p.Gln1041Ter
ENST00000468795.1:c.36C>T
ENST00000647720.1:c.861C>T
ENST00000647720.2:c.3211C>T	ENSP00000497673.2:p.Gln1071Ter
ENST00000647978.2:c.*2925C>T	ENSP00000497658.1:n.*2925C>T
ENST00000648260.1:c.1993C>T	ENSP00000497957.1:p.Gln665Ter
ENST00000649406.1:c.3028C>T	ENSP00000497965.1:p.Gln1010Ter
ENST00000649781.1:c.3028C>T	ENSP00000497203.1:p.Gln1010Ter
ENST00000649781.2:c.3028C>T	ENSP00000497203.1:p.Gln1010Ter
ENST00000685018.2:c.3211C>T	ENSP00000510194.2:p.Gln1071Ter
ENST00000687278.1:c.802C>T	ENSP00000509593.1:p.Gln268Ter
ENST00000687278.2:c.3211C>T	ENSP00000509593.2:p.Gln1071Ter
ENST00000699585.1:c.3211C>T	ENSP00000514456.1:p.Gln1071Ter
ENST00000699598.1:c.3211C>T	ENSP00000514467.1:p.Gln1071Ter
ENST00000699599.1:c.3211C>T	ENSP00000514468.1:p.Gln1071Ter
ENST00000699600.1:c.3211C>T	ENSP00000514469.1:p.Gln1071Ter
ENST00000699601.1:c.*1511C>T	ENSP00000514470.1:n.*1511C>T
ENST00000699602.1:c.3211C>T	ENSP00000514471.1:p.Gln1071Ter
ENST00000699604.1:c.*3035C>T	ENSP00000514472.1:n.*3035C>T
ENST00000699605.1:c.2785C>T	ENSP00000514473.1:p.Gln929Ter
XM_011515751.1:c.3301C>T	XP_011514053.1:p.Gln1101Ter
XM_011515752.1:c.3301C>T	XP_011514054.1:p.Gln1101Ter
XM_011515753.1:c.2968C>T	XP_011514055.1:p.Gln990Ter
XM_011515754.1:c.2968C>T	XP_011514056.1:p.Gln990Ter