Canonical Allele Identifier: CA368974433

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1706019
• ClinVar RCV Id: RCV002284549
• MyVariant Identifiers: chr7:g.117282499T>A (hg19) ; chr7:g.117642445T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642445T>A , CM000669.2:g.117642445T>A	GRCh38
NC_000007.13:g.117282499T>A , CM000669.1:g.117282499T>A	GRCh37
NC_000007.12:g.117069735T>A	NCBI36
NG_016465.4:g.181662T>A , LRG_663:g.181662T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3525T>A	ENSP00000497673.2:p.Pro1175=
ENST00000647978.2:c.*3439T>A	ENSP00000497658.1:n.*3439T>A
ENST00000649781.2:c.3542T>A	ENSP00000497203.1:p.Leu1181His
ENST00000685018.2:c.3725T>A	ENSP00000510194.2:p.Leu1242His
ENST00000687278.2:c.*378T>A	ENSP00000509593.2:n.*378T>A
ENST00000699585.1:c.3525T>A	ENSP00000514456.1:p.Pro1175=
ENST00000699598.1:c.3725T>A	ENSP00000514467.1:p.Leu1242His
ENST00000699599.1:c.3725T>A	ENSP00000514468.1:p.Leu1242His
ENST00000699600.1:c.*386T>A	ENSP00000514469.1:n.*386T>A
ENST00000699601.1:c.*2100T>A	ENSP00000514470.1:n.*2100T>A
ENST00000699602.1:c.3719T>A	ENSP00000514471.1:p.Leu1240His
ENST00000699604.1:c.*3549T>A	ENSP00000514472.1:n.*3549T>A
ENST00000699605.1:c.3299T>A	ENSP00000514473.1:p.Leu1100His
ENST00000685018.1:c.473T>A	ENSP00000510194.1:p.Leu158His
ENST00000687278.1:c.1512T>A	ENSP00000509593.1:n.1512T>A
ENST00000689011.1:c.307T>A
ENST00000003084.11:c.3725T>A MANE Select	ENSP00000003084.6:p.Leu1242His
ENST00000647720.1:c.1175T>A
ENST00000649781.1:c.3542T>A	ENSP00000497203.1:p.Leu1181His
ENST00000003084.10:c.3725T>A	ENSP00000003084.6:p.Leu1242His
ENST00000426809.5:c.3635T>A	ENSP00000389119.1:p.Leu1212His
NM_000492.3:c.3725T>A , LRG_663t1:c.3725T>A	NP_000483.3:p.Leu1242His
XM_011515751.1:c.3815T>A	XP_011514053.1:p.Leu1272His
XM_011515752.1:c.3815T>A	XP_011514054.1:p.Leu1272His
XM_011515753.1:c.3482T>A	XP_011514055.1:p.Leu1161His
XM_011515754.1:c.3482T>A	XP_011514056.1:p.Leu1161His
NM_000492.4:c.3725T>A MANE Select	NP_000483.3:p.Leu1242His