Canonical Allele Identifier: CA215118

Gene: CFTR CFTR-AS1

Linked Data

• MyVariant Identifiers: chr7:g.117199533G>G (hg19) ; chr7:g.117559479G>G (hg38)
• PubMed: PMID:24624459

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117559479G= , CM000669.2:g.117559479G=	GRCh38
NC_000007.13:g.117199533G= , CM000669.1:g.117199533G=	GRCh37
NC_000007.12:g.116986769G=	NCBI36
NG_016465.4:g.98696G= , LRG_663:g.98696G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.1408G= (CFTR)	ENSP00000497673.2:p.Val470=
ENST00000647978.2:c.*1122G= (CFTR)	ENSP00000497658.1:n.*1122G=
ENST00000649781.2:c.1225G= (CFTR)	ENSP00000497203.1:p.Val409=
ENST00000685018.2:c.1408G= (CFTR)	ENSP00000510194.2:p.Val470=
ENST00000687278.2:c.1408G= (CFTR)	ENSP00000509593.2:p.Val470=
ENST00000699585.1:c.1408G= (CFTR)	ENSP00000514456.1:p.Val470=
ENST00000699596.1:c.1408G= (CFTR)	ENSP00000514465.1:p.Val470=
ENST00000699597.1:c.1403G= (CFTR)	ENSP00000514466.1:p.Gly468=
ENST00000699598.1:c.1408G= (CFTR)	ENSP00000514467.1:p.Val470=
ENST00000699599.1:c.1408G= (CFTR)	ENSP00000514468.1:p.Val470=
ENST00000699600.1:c.1408G= (CFTR)	ENSP00000514469.1:p.Val470=
ENST00000699601.1:c.1408G= (CFTR)	ENSP00000514470.1:p.Val470=
ENST00000699602.1:c.1408G= (CFTR)	ENSP00000514471.1:p.Val470=
ENST00000699604.1:c.*1232G= (CFTR)	ENSP00000514472.1:n.*1232G=
ENST00000699605.1:c.982G= (CFTR)	ENSP00000514473.1:p.Val328=
ENST00000003084.11:c.1408G= (CFTR) MANE Select	ENSP00000003084.6:p.Val470=
ENST00000647978.1:c.*1122G= (CFTR)	ENSP00000497658.1:n.*1122G=
ENST00000648260.1:c.1225G= (CFTR)	ENSP00000497957.1:p.Val409=
ENST00000649406.1:c.1225G= (CFTR)	ENSP00000497965.1:p.Val409=
ENST00000649781.1:c.1225G= (CFTR)	ENSP00000497203.1:p.Val409=
ENST00000003084.10:c.1408G= (CFTR)	ENSP00000003084.6:p.Val470=
ENST00000426809.5:c.1318G= (CFTR)	ENSP00000389119.1:p.Val440=
NM_000492.3:c.1408G= , LRG_663t1:c.1408G= (CFTR)	NP_000483.3:p.Val470=
XM_011515751.1:c.1498G= (CFTR)	XP_011514053.1:p.Val500=
XM_011515752.1:c.1498G= (CFTR)	XP_011514054.1:p.Val500=
XM_011515753.1:c.1165G= (CFTR)	XP_011514055.1:p.Val389=
XM_011515754.1:c.1165G= (CFTR)	XP_011514056.1:p.Val389=
NR_149084.1:n.221+1254C= (CFTR-AS1)
NM_000492.4:c.1408G= (CFTR) MANE Select	NP_000483.3:p.Val470=