Canonical Allele Identifier: CA368978243

Gene: CFTR

Linked Data

• gnomAD v4: 7-117652877-C-A
• MyVariant Identifiers: chr7:g.117292931C>A (hg19) ; chr7:g.117652877C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117652877C>A , CM000669.2:g.117652877C>A	GRCh38
NC_000007.13:g.117292931C>A , CM000669.1:g.117292931C>A	GRCh37
NC_000007.12:g.117080167C>A	NCBI36
NG_016465.4:g.192094C>A , LRG_663:g.192094C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*118C>A	ENSP00000497673.2:n.*118C>A
ENST00000647978.2:c.*3623C>A	ENSP00000497658.1:n.*3623C>A
ENST00000649781.2:c.3726C>A	ENSP00000497203.1:p.Asn1242Lys
ENST00000685018.2:c.*122C>A	ENSP00000510194.2:n.*122C>A
ENST00000687278.2:c.*562C>A	ENSP00000509593.2:n.*562C>A
ENST00000699585.1:c.*118C>A	ENSP00000514456.1:n.*118C>A
ENST00000699598.1:c.3909C>A	ENSP00000514467.1:p.Asn1303Lys
ENST00000699599.1:c.*122C>A	ENSP00000514468.1:n.*122C>A
ENST00000699600.1:c.*570C>A	ENSP00000514469.1:n.*570C>A
ENST00000699601.1:c.*2284C>A	ENSP00000514470.1:n.*2284C>A
ENST00000699602.1:c.3903C>A	ENSP00000514471.1:p.Asn1301Lys
ENST00000699604.1:c.*3733C>A	ENSP00000514472.1:n.*3733C>A
ENST00000699605.1:c.3483C>A	ENSP00000514473.1:p.Asn1161Lys
ENST00000699606.1:n.2077C>A
ENST00000685018.1:c.773C>A	ENSP00000510194.1:n.773C>A
ENST00000687278.1:c.1696C>A	ENSP00000509593.1:n.1696C>A
ENST00000689011.1:c.491C>A
ENST00000003084.11:c.3909C>A MANE Select	ENSP00000003084.6:p.Asn1303Lys
ENST00000647720.1:c.1359C>A
ENST00000649781.1:c.3726C>A	ENSP00000497203.1:p.Asn1242Lys
ENST00000003084.10:c.3909C>A	ENSP00000003084.6:p.Asn1303Lys
ENST00000426809.5:c.3819C>A	ENSP00000389119.1:p.Asn1273Lys
ENST00000600166.1:c.35C>A
NM_000492.3:c.3909C>A , LRG_663t1:c.3909C>A	NP_000483.3:p.Asn1303Lys
XM_011515751.1:c.3999C>A	XP_011514053.1:p.Asn1333Lys
XM_011515752.1:c.3999C>A	XP_011514054.1:p.Asn1333Lys
XM_011515753.1:c.3666C>A	XP_011514055.1:p.Asn1222Lys
XM_011515754.1:c.3666C>A	XP_011514056.1:p.Asn1222Lys
NM_000492.4:c.3909C>A MANE Select	NP_000483.3:p.Asn1303Lys