Canonical Allele Identifier: CA368984665

Gene: CFTR

Linked Data

• gnomAD v4: 7-117666961-C-A
• MyVariant Identifiers: chr7:g.117307015C>A (hg19) ; chr7:g.117666961C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666961C>A , CM000669.2:g.117666961C>A	GRCh38
NC_000007.13:g.117307015C>A , CM000669.1:g.117307015C>A	GRCh37
NC_000007.12:g.117094251C>A	NCBI36
NG_016465.4:g.206178C>A , LRG_663:g.206178C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*505C>A	ENSP00000497673.2:n.*505C>A
ENST00000647978.2:c.*4010C>A	ENSP00000497658.1:n.*4010C>A
ENST00000649781.2:c.4113C>A	ENSP00000497203.1:p.Asn1371Lys
ENST00000685018.2:c.*509C>A	ENSP00000510194.2:n.*509C>A
ENST00000687278.2:c.*896-641C>A	ENSP00000509593.2:n.*896-641C>A
ENST00000699585.1:c.*765C>A	ENSP00000514456.1:n.*765C>A
ENST00000699598.1:c.*2C>A	ENSP00000514467.1:n.*2C>A
ENST00000699599.1:c.*509C>A	ENSP00000514468.1:n.*509C>A
ENST00000699600.1:c.*904-641C>A	ENSP00000514469.1:n.*904-641C>A
ENST00000699601.1:c.*2671C>A	ENSP00000514470.1:n.*2671C>A
ENST00000699602.1:c.4290C>A	ENSP00000514471.1:p.Asn1430Lys
ENST00000699604.1:c.*4120C>A	ENSP00000514472.1:n.*4120C>A
ENST00000699605.1:c.3870C>A	ENSP00000514473.1:p.Asn1290Lys
ENST00000699606.1:n.3807C>A
ENST00000685018.1:c.1160C>A	ENSP00000510194.1:n.1160C>A
ENST00000687278.1:c.2030-641C>A	ENSP00000509593.1:n.2030-641C>A
ENST00000689011.1:c.1138C>A
ENST00000003084.11:c.4296C>A MANE Select	ENSP00000003084.6:p.Asn1432Lys
ENST00000647720.1:c.1746C>A
ENST00000649781.1:c.4113C>A	ENSP00000497203.1:p.Asn1371Lys
ENST00000003084.10:c.4296C>A	ENSP00000003084.6:p.Asn1432Lys
ENST00000426809.5:c.4206C>A	ENSP00000389119.1:p.Asn1402Lys
ENST00000600166.1:c.368+1397C>A
NM_000492.3:c.4296C>A , LRG_663t1:c.4296C>A	NP_000483.3:p.Asn1432Lys
XM_011515751.1:c.4386C>A	XP_011514053.1:p.Asn1462Lys
XM_011515753.1:c.4053C>A	XP_011514055.1:p.Asn1351Lys
XM_011515754.1:c.4053C>A	XP_011514056.1:p.Asn1351Lys
NM_000492.4:c.4296C>A MANE Select	NP_000483.3:p.Asn1432Lys