Canonical Allele Identifier: CA457231204

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267644C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627590C>G , CM000669.2:g.117627590C>G	GRCh38
NC_000007.13:g.117267644C>G , CM000669.1:g.117267644C>G	GRCh37
NC_000007.12:g.117054880C>G	NCBI36
NG_016465.4:g.166807C>G , LRG_663:g.166807C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+20C>G	ENSP00000497673.2:n.3517+20C>G
ENST00000647978.2:c.*3251C>G	ENSP00000497658.1:n.*3251C>G
ENST00000649781.2:c.3354C>G	ENSP00000497203.1:p.Thr1118=
ENST00000685018.2:c.3537C>G	ENSP00000510194.2:p.Thr1179=
ENST00000687278.2:c.*190C>G	ENSP00000509593.2:n.*190C>G
ENST00000699585.1:c.3517+20C>G	ENSP00000514456.1:n.3517+20C>G
ENST00000699598.1:c.3537C>G	ENSP00000514467.1:p.Thr1179=
ENST00000699599.1:c.3537C>G	ENSP00000514468.1:p.Thr1179=
ENST00000699600.1:c.*198C>G	ENSP00000514469.1:n.*198C>G
ENST00000699601.1:c.*1912C>G	ENSP00000514470.1:n.*1912C>G
ENST00000699602.1:c.3531C>G	ENSP00000514471.1:p.Thr1177=
ENST00000699604.1:c.*3361C>G	ENSP00000514472.1:n.*3361C>G
ENST00000699605.1:c.3111C>G	ENSP00000514473.1:p.Thr1037=
ENST00000685018.1:c.285C>G	ENSP00000510194.1:p.Thr95=
ENST00000687278.1:c.1324C>G	ENSP00000509593.1:n.1324C>G
ENST00000689011.1:c.119C>G
ENST00000003084.11:c.3537C>G MANE Select	ENSP00000003084.6:p.Thr1179=
ENST00000647720.1:c.1167+20C>G
ENST00000648260.1:c.2319C>G	ENSP00000497957.1:p.Thr773=
ENST00000649406.1:c.3354C>G	ENSP00000497965.1:p.Thr1118=
ENST00000649781.1:c.3354C>G	ENSP00000497203.1:p.Thr1118=
ENST00000003084.10:c.3537C>G	ENSP00000003084.6:p.Thr1179=
ENST00000426809.5:c.3447C>G	ENSP00000389119.1:p.Thr1149=
ENST00000468795.1:c.362C>G
NM_000492.3:c.3537C>G , LRG_663t1:c.3537C>G	NP_000483.3:p.Thr1179=
XM_011515751.1:c.3627C>G	XP_011514053.1:p.Thr1209=
XM_011515752.1:c.3627C>G	XP_011514054.1:p.Thr1209=
XM_011515753.1:c.3294C>G	XP_011514055.1:p.Thr1098=
XM_011515754.1:c.3294C>G	XP_011514056.1:p.Thr1098=
NM_000492.4:c.3537C>G MANE Select	NP_000483.3:p.Thr1179=