Canonical Allele Identifier: CA1737344470
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479994G= , CM000669.2:g.117479994G= GRCh38
NC_000007.13:g.117120048G= , CM000669.1:g.117120048G= GRCh37
NC_000007.12:g.116907284G= NCBI36
NG_016465.4:g.19211G= , LRG_663:g.19211G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000647720.2:c.-101G= ENSP00000497673.2:n.-101G=
ENST00000685018.2:c.-101G= ENSP00000510194.2:n.-101G=
ENST00000687278.2:c.-101G= ENSP00000509593.2:n.-101G=
ENST00000699585.1:c.-101G= ENSP00000514456.1:n.-101G=
ENST00000699596.1:c.-101G= ENSP00000514465.1:n.-101G=
ENST00000699597.1:c.-101G= ENSP00000514466.1:n.-101G=
ENST00000699598.1:c.-101G= ENSP00000514467.1:n.-101G=
ENST00000699599.1:c.-101G= ENSP00000514468.1:n.-101G=
ENST00000699600.1:c.-101G= ENSP00000514469.1:n.-101G=
ENST00000699601.1:c.-101G= ENSP00000514470.1:n.-101G=
ENST00000699602.1:c.-101G= ENSP00000514471.1:n.-101G=
ENST00000446805.2:c.-191+300G= ENSP00000417012.1:n.-191+300G=
ENST00000673785.1:c.-406+14163G= ENSP00000501235.1:n.-406+14163G=
ENST00000003084.10:c.-101G= ENSP00000003084.6:n.-101G=
ENST00000446805.1:c.-191+300G= ENSP00000417012.1:n.-191+300G=
ENST00000546407.1:n.166+4186G=
NM_000492.3:c.-101G= , LRG_663t1:c.-101G= NP_000483.3:n.-101G=
XM_011515751.1:c.143+649G= XP_011514053.1:n.143+649G=
XM_011515752.1:c.143+649G= XP_011514054.1:n.143+649G=
XM_011515753.1:c.-191+300G= XP_011514055.1:n.-191+300G=
XM_011515754.1:c.-518-154G= XP_011514056.1:n.-518-154G=