Canonical Allele Identifier: CA327095

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53683
• ClinVar RCV Id: RCV000586398 ; RCV000670817 ; RCV001175335 ; RCV002228158
• dbSNP Id: rs1800114
• ExAC: 7:117251695 C / T
• gnomAD v2: 7-117251695-C-T
• gnomAD v3: 7-117611641-C-T
• gnomAD v4: 7-117611641-C-T
• MyVariant Identifiers: chr7:g.117251695C>T (hg19) ; chr7:g.117611641C>T (hg38)
• PubMed: PMID:1284534 ; PMID:7539342 ; PMID:9239681 ; PMID:11101688 ; PMID:23891399 ; PMID:24419263 ; PMID:25735457

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611641C>T , CM000669.2:g.117611641C>T	GRCh38
NC_000007.13:g.117251695C>T , CM000669.1:g.117251695C>T	GRCh37
NC_000007.12:g.117038931C>T	NCBI36
NG_016465.4:g.150858C>T , LRG_663:g.150858C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3200C>T	ENSP00000497673.2:p.Ala1067Val
ENST00000647978.2:c.*2914C>T	ENSP00000497658.1:n.*2914C>T
ENST00000649781.2:c.3017C>T	ENSP00000497203.1:p.Ala1006Val
ENST00000685018.2:c.3200C>T	ENSP00000510194.2:p.Ala1067Val
ENST00000687278.2:c.3200C>T	ENSP00000509593.2:p.Ala1067Val
ENST00000699585.1:c.3200C>T	ENSP00000514456.1:p.Ala1067Val
ENST00000699598.1:c.3200C>T	ENSP00000514467.1:p.Ala1067Val
ENST00000699599.1:c.3200C>T	ENSP00000514468.1:p.Ala1067Val
ENST00000699600.1:c.3200C>T	ENSP00000514469.1:p.Ala1067Val
ENST00000699601.1:c.*1500C>T	ENSP00000514470.1:n.*1500C>T
ENST00000699602.1:c.3200C>T	ENSP00000514471.1:p.Ala1067Val
ENST00000699604.1:c.*3024C>T	ENSP00000514472.1:n.*3024C>T
ENST00000699605.1:c.2774C>T	ENSP00000514473.1:p.Ala925Val
ENST00000687278.1:c.791C>T	ENSP00000509593.1:p.Ala264Val
ENST00000003084.11:c.3200C>T MANE Select	ENSP00000003084.6:p.Ala1067Val
ENST00000647720.1:c.850C>T
ENST00000648260.1:c.1982C>T	ENSP00000497957.1:p.Ala661Val
ENST00000649406.1:c.3017C>T	ENSP00000497965.1:p.Ala1006Val
ENST00000649781.1:c.3017C>T	ENSP00000497203.1:p.Ala1006Val
ENST00000003084.10:c.3200C>T	ENSP00000003084.6:p.Ala1067Val
ENST00000426809.5:c.3110C>T	ENSP00000389119.1:p.Ala1037Val
ENST00000468795.1:c.25C>T
NM_000492.3:c.3200C>T , LRG_663t1:c.3200C>T	NP_000483.3:p.Ala1067Val
XM_011515751.1:c.3290C>T	XP_011514053.1:p.Ala1097Val
XM_011515752.1:c.3290C>T	XP_011514054.1:p.Ala1097Val
XM_011515753.1:c.2957C>T	XP_011514055.1:p.Ala986Val
XM_011515754.1:c.2957C>T	XP_011514056.1:p.Ala986Val
NM_000492.4:c.3200C>T MANE Select	NP_000483.3:p.Ala1067Val