Canonical Allele Identifier: CA457231075

Gene: CFTR

Linked Data

• gnomAD v4: 7-117666910-C-A
• MyVariant Identifiers: chr7:g.117306964C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117666910C>A , CM000669.2:g.117666910C>A	GRCh38
NC_000007.13:g.117306964C>A , CM000669.1:g.117306964C>A	GRCh37
NC_000007.12:g.117094200C>A	NCBI36
NG_016465.4:g.206127C>A , LRG_663:g.206127C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.*454C>A	ENSP00000497673.2:n.*454C>A
ENST00000647978.2:c.*3959C>A	ENSP00000497658.1:n.*3959C>A
ENST00000649781.2:c.4062C>A	ENSP00000497203.1:p.Val1354=
ENST00000685018.2:c.*458C>A	ENSP00000510194.2:n.*458C>A
ENST00000687278.2:c.*896-692C>A	ENSP00000509593.2:n.*896-692C>A
ENST00000699585.1:c.*714C>A	ENSP00000514456.1:n.*714C>A
ENST00000699598.1:c.4243-5C>A	ENSP00000514467.1:n.4243-5C>A
ENST00000699599.1:c.*458C>A	ENSP00000514468.1:n.*458C>A
ENST00000699600.1:c.*904-692C>A	ENSP00000514469.1:n.*904-692C>A
ENST00000699601.1:c.*2620C>A	ENSP00000514470.1:n.*2620C>A
ENST00000699602.1:c.4239C>A	ENSP00000514471.1:p.Val1413=
ENST00000699604.1:c.*4069C>A	ENSP00000514472.1:n.*4069C>A
ENST00000699605.1:c.3819C>A	ENSP00000514473.1:p.Val1273=
ENST00000699606.1:n.3756C>A
ENST00000685018.1:c.1109C>A	ENSP00000510194.1:n.1109C>A
ENST00000687278.1:c.2030-692C>A	ENSP00000509593.1:n.2030-692C>A
ENST00000689011.1:c.1087C>A
ENST00000003084.11:c.4245C>A MANE Select	ENSP00000003084.6:p.Val1415=
ENST00000647720.1:c.1695C>A
ENST00000649781.1:c.4062C>A	ENSP00000497203.1:p.Val1354=
ENST00000003084.10:c.4245C>A	ENSP00000003084.6:p.Val1415=
ENST00000426809.5:c.4155C>A	ENSP00000389119.1:p.Val1385=
ENST00000600166.1:c.368+1346C>A
NM_000492.3:c.4245C>A , LRG_663t1:c.4245C>A	NP_000483.3:p.Val1415=
XM_011515751.1:c.4335C>A	XP_011514053.1:p.Val1445=
XM_011515753.1:c.4002C>A	XP_011514055.1:p.Val1334=
XM_011515754.1:c.4002C>A	XP_011514056.1:p.Val1334=
NM_000492.4:c.4245C>A MANE Select	NP_000483.3:p.Val1415=