Canonical Allele Identifier: CA457231147

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267584T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627530T>G , CM000669.2:g.117627530T>G	GRCh38
NC_000007.13:g.117267584T>G , CM000669.1:g.117267584T>G	GRCh37
NC_000007.12:g.117054820T>G	NCBI36
NG_016465.4:g.166747T>G , LRG_663:g.166747T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3477T>G	ENSP00000497673.2:p.Ser1159=
ENST00000647978.2:c.*3191T>G	ENSP00000497658.1:n.*3191T>G
ENST00000649781.2:c.3294T>G	ENSP00000497203.1:p.Ser1098=
ENST00000685018.2:c.3477T>G	ENSP00000510194.2:p.Ser1159=
ENST00000687278.2:c.*130T>G	ENSP00000509593.2:n.*130T>G
ENST00000699585.1:c.3477T>G	ENSP00000514456.1:p.Ser1159=
ENST00000699598.1:c.3477T>G	ENSP00000514467.1:p.Ser1159=
ENST00000699599.1:c.3477T>G	ENSP00000514468.1:p.Ser1159=
ENST00000699600.1:c.*138T>G	ENSP00000514469.1:n.*138T>G
ENST00000699601.1:c.*1852T>G	ENSP00000514470.1:n.*1852T>G
ENST00000699602.1:c.3471T>G	ENSP00000514471.1:p.Ser1157=
ENST00000699604.1:c.*3301T>G	ENSP00000514472.1:n.*3301T>G
ENST00000699605.1:c.3051T>G	ENSP00000514473.1:p.Ser1017=
ENST00000685018.1:c.225T>G	ENSP00000510194.1:p.Ser75=
ENST00000687278.1:c.1264T>G	ENSP00000509593.1:n.1264T>G
ENST00000689011.1:c.59T>G
ENST00000003084.11:c.3477T>G MANE Select	ENSP00000003084.6:p.Ser1159=
ENST00000647720.1:c.1127T>G
ENST00000648260.1:c.2259T>G	ENSP00000497957.1:p.Ser753=
ENST00000649406.1:c.3294T>G	ENSP00000497965.1:p.Ser1098=
ENST00000649781.1:c.3294T>G	ENSP00000497203.1:p.Ser1098=
ENST00000003084.10:c.3477T>G	ENSP00000003084.6:p.Ser1159=
ENST00000426809.5:c.3387T>G	ENSP00000389119.1:p.Ser1129=
ENST00000468795.1:c.302T>G
NM_000492.3:c.3477T>G , LRG_663t1:c.3477T>G	NP_000483.3:p.Ser1159=
XM_011515751.1:c.3567T>G	XP_011514053.1:p.Ser1189=
XM_011515752.1:c.3567T>G	XP_011514054.1:p.Ser1189=
XM_011515753.1:c.3234T>G	XP_011514055.1:p.Ser1078=
XM_011515754.1:c.3234T>G	XP_011514056.1:p.Ser1078=
NM_000492.4:c.3477T>G MANE Select	NP_000483.3:p.Ser1159=