Canonical Allele Identifier: CA368983513

Gene: CFTR

Linked Data

• gnomAD v4: 7-117665499-G-A
• MyVariant Identifiers: chr7:g.117305553G>A (hg19) ; chr7:g.117665499G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117665499G>A , CM000669.2:g.117665499G>A	GRCh38
NC_000007.13:g.117305553G>A , CM000669.1:g.117305553G>A	GRCh37
NC_000007.12:g.117092789G>A	NCBI36
NG_016465.4:g.204716G>A , LRG_663:g.204716G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.*386G>A	ENSP00000497673.2:n.*386G>A
ENST00000647978.2:c.*3891G>A	ENSP00000497658.1:n.*3891G>A
ENST00000649781.2:c.3994G>A	ENSP00000497203.1:p.Ala1332Thr
ENST00000685018.2:c.*390G>A	ENSP00000510194.2:n.*390G>A
ENST00000687278.2:c.*830G>A	ENSP00000509593.2:n.*830G>A
ENST00000699585.1:c.*386G>A	ENSP00000514456.1:n.*386G>A
ENST00000699598.1:c.4177G>A	ENSP00000514467.1:p.Ala1393Thr
ENST00000699599.1:c.*390G>A	ENSP00000514468.1:n.*390G>A
ENST00000699600.1:c.*838G>A	ENSP00000514469.1:n.*838G>A
ENST00000699601.1:c.*2552G>A	ENSP00000514470.1:n.*2552G>A
ENST00000699602.1:c.4171G>A	ENSP00000514471.1:p.Ala1391Thr
ENST00000699604.1:c.*4001G>A	ENSP00000514472.1:n.*4001G>A
ENST00000699605.1:c.3751G>A	ENSP00000514473.1:p.Ala1251Thr
ENST00000699606.1:n.2345G>A
ENST00000685018.1:c.1041G>A	ENSP00000510194.1:n.1041G>A
ENST00000687278.1:c.1964G>A	ENSP00000509593.1:n.1964G>A
ENST00000689011.1:c.759G>A
ENST00000003084.11:c.4177G>A MANE Select	ENSP00000003084.6:p.Ala1393Thr
ENST00000647720.1:c.1627G>A
ENST00000649781.1:c.3994G>A	ENSP00000497203.1:p.Ala1332Thr
ENST00000003084.10:c.4177G>A	ENSP00000003084.6:p.Ala1393Thr
ENST00000426809.5:c.4087G>A	ENSP00000389119.1:p.Ala1363Thr
ENST00000600166.1:c.303G>A
NM_000492.3:c.4177G>A , LRG_663t1:c.4177G>A	NP_000483.3:p.Ala1393Thr
XM_011515751.1:c.4267G>A	XP_011514053.1:p.Ala1423Thr
XM_011515752.1:c.4267G>A	XP_011514054.1:p.Ala1423Thr
XM_011515753.1:c.3934G>A	XP_011514055.1:p.Ala1312Thr
XM_011515754.1:c.3934G>A	XP_011514056.1:p.Ala1312Thr
NM_000492.4:c.4177G>A MANE Select	NP_000483.3:p.Ala1393Thr