Canonical Allele Identifier: CA368983703

Gene: CFTR

Linked Data

• ClinVar Variation Id: 2447410
• ClinVar RCV Id: RCV003176430
• MyVariant Identifiers: chr7:g.117305585G>T (hg19) ; chr7:g.117665531G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665531G>T , CM000669.2:g.117665531G>T	GRCh38
NC_000007.13:g.117305585G>T , CM000669.1:g.117305585G>T	GRCh37
NC_000007.12:g.117092821G>T	NCBI36
NG_016465.4:g.204748G>T , LRG_663:g.204748G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*418G>T	ENSP00000497673.2:n.*418G>T
ENST00000647978.2:c.*3923G>T	ENSP00000497658.1:n.*3923G>T
ENST00000649781.2:c.4026G>T	ENSP00000497203.1:p.Arg1342Ser
ENST00000685018.2:c.*422G>T	ENSP00000510194.2:n.*422G>T
ENST00000687278.2:c.*862G>T	ENSP00000509593.2:n.*862G>T
ENST00000699585.1:c.*418G>T	ENSP00000514456.1:n.*418G>T
ENST00000699598.1:c.4209G>T	ENSP00000514467.1:p.Arg1403Ser
ENST00000699599.1:c.*422G>T	ENSP00000514468.1:n.*422G>T
ENST00000699600.1:c.*870G>T	ENSP00000514469.1:n.*870G>T
ENST00000699601.1:c.*2584G>T	ENSP00000514470.1:n.*2584G>T
ENST00000699602.1:c.4203G>T	ENSP00000514471.1:p.Arg1401Ser
ENST00000699604.1:c.*4033G>T	ENSP00000514472.1:n.*4033G>T
ENST00000699605.1:c.3783G>T	ENSP00000514473.1:p.Arg1261Ser
ENST00000699606.1:n.2377G>T
ENST00000685018.1:c.1073G>T	ENSP00000510194.1:n.1073G>T
ENST00000687278.1:c.1996G>T	ENSP00000509593.1:n.1996G>T
ENST00000689011.1:c.791G>T
ENST00000003084.11:c.4209G>T MANE Select	ENSP00000003084.6:p.Arg1403Ser
ENST00000647720.1:c.1659G>T
ENST00000649781.1:c.4026G>T	ENSP00000497203.1:p.Arg1342Ser
ENST00000003084.10:c.4209G>T	ENSP00000003084.6:p.Arg1403Ser
ENST00000426809.5:c.4119G>T	ENSP00000389119.1:p.Arg1373Ser
ENST00000600166.1:c.335G>T
NM_000492.3:c.4209G>T , LRG_663t1:c.4209G>T	NP_000483.3:p.Arg1403Ser
XM_011515751.1:c.4299G>T	XP_011514053.1:p.Arg1433Ser
XM_011515752.1:c.4299G>T	XP_011514054.1:p.Arg1433Ser
XM_011515753.1:c.3966G>T	XP_011514055.1:p.Arg1322Ser
XM_011515754.1:c.3966G>T	XP_011514056.1:p.Arg1322Ser
NM_000492.4:c.4209G>T MANE Select	NP_000483.3:p.Arg1403Ser