Canonical Allele Identifier: CA913189997

Gene: CFTR CFTR-AS1

Linked Data

• ClinVar Variation Id: 634906
• ClinVar RCV Id: RCV000785762
• dbSNP Id: rs1562894928

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117548642_117548824del , CM000669.2:g.117548642_117548824del	GRCh38
NC_000007.13:g.117188696_117188878del , CM000669.1:g.117188696_117188878del	GRCh37
NC_000007.12:g.116975932_116976114del	NCBI36
NG_016465.4:g.87859_88041del , LRG_663:g.87859_88041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.1211_1392+1del (CFTR)
ENST00000647978.2:c.*1106+6534_*1106+6716del (CFTR)	ENSP00000497658.1:n.*1106+6534_*1106+6716del
ENST00000649781.2:c.1209+6534_1209+6716del (CFTR)	ENSP00000497203.1:n.1209+6534_1209+6716del
ENST00000685018.2:c.1211_1392+1del (CFTR)
ENST00000687278.2:c.1211_1392+1del (CFTR)
ENST00000699585.1:c.1211_1392+1del (CFTR)
ENST00000699596.1:c.1211_1392+1del (CFTR)
ENST00000699597.1:c.1211_1387+6del (CFTR)
ENST00000699598.1:c.1211_1392+1del (CFTR)
ENST00000699599.1:c.1211_1392+1del (CFTR)
ENST00000699600.1:c.1211_1392+1del (CFTR)
ENST00000699601.1:c.1211_1392+1del (CFTR)
ENST00000699602.1:c.1211_1392+1del (CFTR)
ENST00000699604.1:c.*1035_*1216+1del (CFTR)
ENST00000699605.1:c.966+6534_966+6716del (CFTR)	ENSP00000514473.1:n.966+6534_966+6716del
ENST00000003084.11:c.1211_1392+1del (CFTR)
ENST00000647978.1:c.*1106+6534_*1106+6716del (CFTR)	ENSP00000497658.1:n.*1106+6534_*1106+6716del
ENST00000648260.1:c.1209+6534_1209+6716del (CFTR)	ENSP00000497957.1:n.1209+6534_1209+6716del
ENST00000649406.1:c.1209+6534_1209+6716del (CFTR)	ENSP00000497965.1:n.1209+6534_1209+6716del
ENST00000649781.1:c.1209+6534_1209+6716del (CFTR)	ENSP00000497203.1:n.1209+6534_1209+6716del
ENST00000003084.10:c.1211_1392+1del (CFTR)
ENST00000426809.5:c.1121_1302+1del (CFTR)
NM_000492.3:c.1211_1392+1del , LRG_663t1:c.1211_1392+1del (CFTR)
XM_011515751.1:c.1301_1482+1del (CFTR)
XM_011515752.1:c.1301_1482+1del (CFTR)
XM_011515753.1:c.968_1149+1del (CFTR)
XM_011515754.1:c.968_1149+1del (CFTR)
NR_149084.1:n.222-6282_222-6100del (CFTR-AS1)
NM_000492.4:c.1211_1392+1del (CFTR)