Canonical Allele Identifier: CA368984080

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1163870
• ClinVar RCV Id: RCV001509320 ; RCV003365422
• dbSNP Id: rs2116039854
• gnomAD v4: 7-117595053-G-A
• MyVariant Identifiers: chr7:g.117235107G>A (hg19) ; chr7:g.117595053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117595053G>A , CM000669.2:g.117595053G>A	GRCh38
NC_000007.13:g.117235107G>A , CM000669.1:g.117235107G>A	GRCh37
NC_000007.12:g.117022343G>A	NCBI36
NG_016465.4:g.134270G>A , LRG_663:g.134270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2614G>A	ENSP00000497673.2:p.Ala872Thr
ENST00000647978.2:c.*2328G>A	ENSP00000497658.1:n.*2328G>A
ENST00000649781.2:c.2431G>A	ENSP00000497203.1:p.Ala811Thr
ENST00000685018.2:c.2614G>A	ENSP00000510194.2:p.Ala872Thr
ENST00000687278.2:c.2614G>A	ENSP00000509593.2:p.Ala872Thr
ENST00000699585.1:c.2614G>A	ENSP00000514456.1:p.Ala872Thr
ENST00000699598.1:c.2614G>A	ENSP00000514467.1:p.Ala872Thr
ENST00000699599.1:c.2614G>A	ENSP00000514468.1:p.Ala872Thr
ENST00000699600.1:c.2614G>A	ENSP00000514469.1:p.Ala872Thr
ENST00000699601.1:c.*914G>A	ENSP00000514470.1:n.*914G>A
ENST00000699602.1:c.2614G>A	ENSP00000514471.1:p.Ala872Thr
ENST00000699604.1:c.*2438G>A	ENSP00000514472.1:n.*2438G>A
ENST00000699605.1:c.2188G>A	ENSP00000514473.1:p.Ala730Thr
ENST00000687278.1:c.205G>A	ENSP00000509593.1:p.Ala69Thr
ENST00000003084.11:c.2614G>A MANE Select	ENSP00000003084.6:p.Ala872Thr
ENST00000647720.1:c.264G>A
ENST00000648260.1:c.1402-7773G>A	ENSP00000497957.1:n.1402-7773G>A
ENST00000649406.1:c.2431G>A	ENSP00000497965.1:p.Ala811Thr
ENST00000649781.1:c.2431G>A	ENSP00000497203.1:p.Ala811Thr
ENST00000003084.10:c.2614G>A	ENSP00000003084.6:p.Ala872Thr
ENST00000426809.5:c.2524G>A	ENSP00000389119.1:p.Ala842Thr
NM_000492.3:c.2614G>A , LRG_663t1:c.2614G>A	NP_000483.3:p.Ala872Thr
XM_011515751.1:c.2704G>A	XP_011514053.1:p.Ala902Thr
XM_011515752.1:c.2704G>A	XP_011514054.1:p.Ala902Thr
XM_011515753.1:c.2371G>A	XP_011514055.1:p.Ala791Thr
XM_011515754.1:c.2371G>A	XP_011514056.1:p.Ala791Thr
NM_000492.4:c.2614G>A MANE Select	NP_000483.3:p.Ala872Thr