Canonical Allele Identifier: CA345319

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53613
• ClinVar RCV Id: RCV000056376 ; RCV000780171 ; RCV001781375 ; RCV001831764 ; RCV002490613 ; RCV003466906
• dbSNP Id: rs397508470
• gnomAD v2: 7-117250572-G-A
• gnomAD v4: 7-117610518-G-A
• MyVariant Identifiers: chr7:g.117250572G>A (hg19) ; chr7:g.117610518G>A (hg38)
• PubMed: PMID:10875853 ; PMID:17331079 ; PMID:17662673 ; PMID:19265749 ; PMID:20932506 ; PMID:21514289 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610518G>A , CM000669.2:g.117610518G>A	GRCh38
NC_000007.13:g.117250572G>A , CM000669.1:g.117250572G>A	GRCh37
NC_000007.12:g.117037808G>A	NCBI36
NG_016465.4:g.149735G>A , LRG_663:g.149735G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.2989-1G>A	ENSP00000497673.2:n.2989-1G>A
ENST00000647978.2:c.*2703-1G>A	ENSP00000497658.1:n.*2703-1G>A
ENST00000649781.2:c.2806-1G>A	ENSP00000497203.1:n.2806-1G>A
ENST00000685018.2:c.2989-1G>A	ENSP00000510194.2:n.2989-1G>A
ENST00000687278.2:c.2989-1G>A	ENSP00000509593.2:n.2989-1G>A
ENST00000699585.1:c.2989-1G>A	ENSP00000514456.1:n.2989-1G>A
ENST00000699598.1:c.2989-1G>A	ENSP00000514467.1:n.2989-1G>A
ENST00000699599.1:c.2989-1G>A	ENSP00000514468.1:n.2989-1G>A
ENST00000699600.1:c.2989-1G>A	ENSP00000514469.1:n.2989-1G>A
ENST00000699601.1:c.*1289-1G>A	ENSP00000514470.1:n.*1289-1G>A
ENST00000699602.1:c.2989-1G>A	ENSP00000514471.1:n.2989-1G>A
ENST00000699604.1:c.*2813-1G>A	ENSP00000514472.1:n.*2813-1G>A
ENST00000699605.1:c.2563-1G>A	ENSP00000514473.1:n.2563-1G>A
ENST00000687278.1:c.580-1G>A	ENSP00000509593.1:n.580-1G>A
ENST00000003084.11:c.2989-1G>A MANE Select	ENSP00000003084.6:n.2989-1G>A
ENST00000647720.1:c.639-1G>A
ENST00000648260.1:c.1771-1G>A	ENSP00000497957.1:n.1771-1G>A
ENST00000649406.1:c.2806-1G>A	ENSP00000497965.1:n.2806-1G>A
ENST00000649781.1:c.2806-1G>A	ENSP00000497203.1:n.2806-1G>A
ENST00000003084.10:c.2989-1G>A	ENSP00000003084.6:n.2989-1G>A
ENST00000426809.5:c.2899-1G>A	ENSP00000389119.1:n.2899-1G>A
NM_000492.3:c.2989-1G>A , LRG_663t1:c.2989-1G>A	NP_000483.3:n.2989-1G>A
XM_011515751.1:c.3079-1G>A	XP_011514053.1:n.3079-1G>A
XM_011515752.1:c.3079-1G>A	XP_011514054.1:n.3079-1G>A
XM_011515753.1:c.2746-1G>A	XP_011514055.1:n.2746-1G>A
XM_011515754.1:c.2746-1G>A	XP_011514056.1:n.2746-1G>A
NM_000492.4:c.2989-1G>A MANE Select	NP_000483.3:n.2989-1G>A