Canonical Allele Identifier: CA368997412

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117267775G>T (hg19) ; chr7:g.117627721G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627721G>T , CM000669.2:g.117627721G>T	GRCh38
NC_000007.13:g.117267775G>T , CM000669.1:g.117267775G>T	GRCh37
NC_000007.12:g.117055011G>T	NCBI36
NG_016465.4:g.166938G>T , LRG_663:g.166938G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+151G>T	ENSP00000497673.2:n.3517+151G>T
ENST00000647978.2:c.*3382G>T	ENSP00000497658.1:n.*3382G>T
ENST00000649781.2:c.3485G>T	ENSP00000497203.1:p.Gly1162Val
ENST00000685018.2:c.3668G>T	ENSP00000510194.2:p.Gly1223Val
ENST00000687278.2:c.*321G>T	ENSP00000509593.2:n.*321G>T
ENST00000699585.1:c.3517+151G>T	ENSP00000514456.1:n.3517+151G>T
ENST00000699598.1:c.3668G>T	ENSP00000514467.1:p.Gly1223Val
ENST00000699599.1:c.3668G>T	ENSP00000514468.1:p.Gly1223Val
ENST00000699600.1:c.*329G>T	ENSP00000514469.1:n.*329G>T
ENST00000699601.1:c.*2043G>T	ENSP00000514470.1:n.*2043G>T
ENST00000699602.1:c.3662G>T	ENSP00000514471.1:p.Gly1221Val
ENST00000699604.1:c.*3492G>T	ENSP00000514472.1:n.*3492G>T
ENST00000699605.1:c.3242G>T	ENSP00000514473.1:p.Gly1081Val
ENST00000685018.1:c.416G>T	ENSP00000510194.1:p.Gly139Val
ENST00000687278.1:c.1455G>T	ENSP00000509593.1:n.1455G>T
ENST00000689011.1:c.250G>T
ENST00000003084.11:c.3668G>T MANE Select	ENSP00000003084.6:p.Gly1223Val
ENST00000647720.1:c.1167+151G>T
ENST00000648260.1:c.2450G>T	ENSP00000497957.1:p.Gly817Val
ENST00000649406.1:c.3485G>T	ENSP00000497965.1:p.Gly1162Val
ENST00000649781.1:c.3485G>T	ENSP00000497203.1:p.Gly1162Val
ENST00000003084.10:c.3668G>T	ENSP00000003084.6:p.Gly1223Val
ENST00000426809.5:c.3578G>T	ENSP00000389119.1:p.Gly1193Val
ENST00000468795.1:c.493G>T
NM_000492.3:c.3668G>T , LRG_663t1:c.3668G>T	NP_000483.3:p.Gly1223Val
XM_011515751.1:c.3758G>T	XP_011514053.1:p.Gly1253Val
XM_011515752.1:c.3758G>T	XP_011514054.1:p.Gly1253Val
XM_011515753.1:c.3425G>T	XP_011514055.1:p.Gly1142Val
XM_011515754.1:c.3425G>T	XP_011514056.1:p.Gly1142Val
NM_000492.4:c.3668G>T MANE Select	NP_000483.3:p.Gly1223Val