Canonical Allele Identifier: CA457230921

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305606C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665552C>T , CM000669.2:g.117665552C>T	GRCh38
NC_000007.13:g.117305606C>T , CM000669.1:g.117305606C>T	GRCh37
NC_000007.12:g.117092842C>T	NCBI36
NG_016465.4:g.204769C>T , LRG_663:g.204769C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*439C>T	ENSP00000497673.2:n.*439C>T
ENST00000647978.2:c.*3944C>T	ENSP00000497658.1:n.*3944C>T
ENST00000649781.2:c.4047C>T	ENSP00000497203.1:p.Cys1349=
ENST00000685018.2:c.*443C>T	ENSP00000510194.2:n.*443C>T
ENST00000687278.2:c.*883C>T	ENSP00000509593.2:n.*883C>T
ENST00000699585.1:c.*439C>T	ENSP00000514456.1:n.*439C>T
ENST00000699598.1:c.4230C>T	ENSP00000514467.1:p.Cys1410=
ENST00000699599.1:c.*443C>T	ENSP00000514468.1:n.*443C>T
ENST00000699600.1:c.*891C>T	ENSP00000514469.1:n.*891C>T
ENST00000699601.1:c.*2605C>T	ENSP00000514470.1:n.*2605C>T
ENST00000699602.1:c.4224C>T	ENSP00000514471.1:p.Cys1408=
ENST00000699604.1:c.*4054C>T	ENSP00000514472.1:n.*4054C>T
ENST00000699605.1:c.3804C>T	ENSP00000514473.1:p.Cys1268=
ENST00000699606.1:n.2398C>T
ENST00000685018.1:c.1094C>T	ENSP00000510194.1:n.1094C>T
ENST00000687278.1:c.2017C>T	ENSP00000509593.1:n.2017C>T
ENST00000689011.1:c.812C>T
ENST00000003084.11:c.4230C>T MANE Select	ENSP00000003084.6:p.Cys1410=
ENST00000647720.1:c.1680C>T
ENST00000649781.1:c.4047C>T	ENSP00000497203.1:p.Cys1349=
ENST00000003084.10:c.4230C>T	ENSP00000003084.6:p.Cys1410=
ENST00000426809.5:c.4140C>T	ENSP00000389119.1:p.Cys1380=
ENST00000600166.1:c.356C>T
NM_000492.3:c.4230C>T , LRG_663t1:c.4230C>T	NP_000483.3:p.Cys1410=
XM_011515751.1:c.4320C>T	XP_011514053.1:p.Cys1440=
XM_011515752.1:c.4320C>T	XP_011514054.1:p.Cys1440=
XM_011515753.1:c.3987C>T	XP_011514055.1:p.Cys1329=
XM_011515754.1:c.3987C>T	XP_011514056.1:p.Cys1329=
NM_000492.4:c.4230C>T MANE Select	NP_000483.3:p.Cys1410=