Canonical Allele Identifier: CA368983672

Gene: CFTR

Linked Data

• MyVariant Identifiers: chr7:g.117305580C>A (hg19) ; chr7:g.117665526C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665526C>A , CM000669.2:g.117665526C>A	GRCh38
NC_000007.13:g.117305580C>A , CM000669.1:g.117305580C>A	GRCh37
NC_000007.12:g.117092816C>A	NCBI36
NG_016465.4:g.204743C>A , LRG_663:g.204743C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*413C>A	ENSP00000497673.2:n.*413C>A
ENST00000647978.2:c.*3918C>A	ENSP00000497658.1:n.*3918C>A
ENST00000649781.2:c.4021C>A	ENSP00000497203.1:p.His1341Asn
ENST00000685018.2:c.*417C>A	ENSP00000510194.2:n.*417C>A
ENST00000687278.2:c.*857C>A	ENSP00000509593.2:n.*857C>A
ENST00000699585.1:c.*413C>A	ENSP00000514456.1:n.*413C>A
ENST00000699598.1:c.4204C>A	ENSP00000514467.1:p.His1402Asn
ENST00000699599.1:c.*417C>A	ENSP00000514468.1:n.*417C>A
ENST00000699600.1:c.*865C>A	ENSP00000514469.1:n.*865C>A
ENST00000699601.1:c.*2579C>A	ENSP00000514470.1:n.*2579C>A
ENST00000699602.1:c.4198C>A	ENSP00000514471.1:p.His1400Asn
ENST00000699604.1:c.*4028C>A	ENSP00000514472.1:n.*4028C>A
ENST00000699605.1:c.3778C>A	ENSP00000514473.1:p.His1260Asn
ENST00000699606.1:n.2372C>A
ENST00000685018.1:c.1068C>A	ENSP00000510194.1:n.1068C>A
ENST00000687278.1:c.1991C>A	ENSP00000509593.1:n.1991C>A
ENST00000689011.1:c.786C>A
ENST00000003084.11:c.4204C>A MANE Select	ENSP00000003084.6:p.His1402Asn
ENST00000647720.1:c.1654C>A
ENST00000649781.1:c.4021C>A	ENSP00000497203.1:p.His1341Asn
ENST00000003084.10:c.4204C>A	ENSP00000003084.6:p.His1402Asn
ENST00000426809.5:c.4114C>A	ENSP00000389119.1:p.His1372Asn
ENST00000600166.1:c.330C>A
NM_000492.3:c.4204C>A , LRG_663t1:c.4204C>A	NP_000483.3:p.His1402Asn
XM_011515751.1:c.4294C>A	XP_011514053.1:p.His1432Asn
XM_011515752.1:c.4294C>A	XP_011514054.1:p.His1432Asn
XM_011515753.1:c.3961C>A	XP_011514055.1:p.His1321Asn
XM_011515754.1:c.3961C>A	XP_011514056.1:p.His1321Asn
NM_000492.4:c.4204C>A MANE Select	NP_000483.3:p.His1402Asn