Canonical Allele Identifier: CA368983522

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305554C>A (hg19) ; chr7:g.117665500C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665500C>A , CM000669.2:g.117665500C>A	GRCh38
NC_000007.13:g.117305554C>A , CM000669.1:g.117305554C>A	GRCh37
NC_000007.12:g.117092790C>A	NCBI36
NG_016465.4:g.204717C>A , LRG_663:g.204717C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*387C>A	ENSP00000497673.2:n.*387C>A
ENST00000647978.2:c.*3892C>A	ENSP00000497658.1:n.*3892C>A
ENST00000649781.2:c.3995C>A	ENSP00000497203.1:p.Ala1332Asp
ENST00000685018.2:c.*391C>A	ENSP00000510194.2:n.*391C>A
ENST00000687278.2:c.*831C>A	ENSP00000509593.2:n.*831C>A
ENST00000699585.1:c.*387C>A	ENSP00000514456.1:n.*387C>A
ENST00000699598.1:c.4178C>A	ENSP00000514467.1:p.Ala1393Asp
ENST00000699599.1:c.*391C>A	ENSP00000514468.1:n.*391C>A
ENST00000699600.1:c.*839C>A	ENSP00000514469.1:n.*839C>A
ENST00000699601.1:c.*2553C>A	ENSP00000514470.1:n.*2553C>A
ENST00000699602.1:c.4172C>A	ENSP00000514471.1:p.Ala1391Asp
ENST00000699604.1:c.*4002C>A	ENSP00000514472.1:n.*4002C>A
ENST00000699605.1:c.3752C>A	ENSP00000514473.1:p.Ala1251Asp
ENST00000699606.1:n.2346C>A
ENST00000685018.1:c.1042C>A	ENSP00000510194.1:n.1042C>A
ENST00000687278.1:c.1965C>A	ENSP00000509593.1:n.1965C>A
ENST00000689011.1:c.760C>A
ENST00000003084.11:c.4178C>A MANE Select	ENSP00000003084.6:p.Ala1393Asp
ENST00000647720.1:c.1628C>A
ENST00000649781.1:c.3995C>A	ENSP00000497203.1:p.Ala1332Asp
ENST00000003084.10:c.4178C>A	ENSP00000003084.6:p.Ala1393Asp
ENST00000426809.5:c.4088C>A	ENSP00000389119.1:p.Ala1363Asp
ENST00000600166.1:c.304C>A
NM_000492.3:c.4178C>A , LRG_663t1:c.4178C>A	NP_000483.3:p.Ala1393Asp
XM_011515751.1:c.4268C>A	XP_011514053.1:p.Ala1423Asp
XM_011515752.1:c.4268C>A	XP_011514054.1:p.Ala1423Asp
XM_011515753.1:c.3935C>A	XP_011514055.1:p.Ala1312Asp
XM_011515754.1:c.3935C>A	XP_011514056.1:p.Ala1312Asp
NM_000492.4:c.4178C>A MANE Select	NP_000483.3:p.Ala1393Asp