Canonical Allele Identifier: CA913189992
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 619839
ClinVar RCV Id: RCV000759770
dbSNP Id: rs1562892108

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117540100_117540346del , CM000669.2:g.117540100_117540346del GRCh38
NC_000007.13:g.117180154_117180400del , CM000669.1:g.117180154_117180400del GRCh37
NC_000007.12:g.116967390_116967636del NCBI36
NG_016465.4:g.79317_79563del , LRG_663:g.79317_79563del

Transcript Alleles

HGVS Amino-acid change
ENST00000647720.2:c.870_1116del
ENST00000647978.2:c.*767_*1013del
ENST00000649781.2:c.870_1116del
ENST00000685018.2:c.870_1116del
ENST00000687278.2:c.870_1116del
ENST00000699585.1:c.870_1116del
ENST00000699596.1:c.870_1116del
ENST00000699597.1:c.870_1116del
ENST00000699598.1:c.870_1116del
ENST00000699599.1:c.870_1116del
ENST00000699600.1:c.870_1116del
ENST00000699601.1:c.870_1116del
ENST00000699602.1:c.870_1116del
ENST00000699604.1:c.*694_*940del
ENST00000699605.1:c.627_873del
ENST00000003084.11:c.870_1116del
ENST00000647978.1:c.*767_*1013del
ENST00000648260.1:c.870_1116del
ENST00000649406.1:c.870_1116del
ENST00000649781.1:c.870_1116del
ENST00000673785.1:c.627_873del
ENST00000003084.10:c.870_1116del
ENST00000426809.5:c.780_1026del
NM_000492.3:c.870_1116del , LRG_663t1:c.870_1116del
XM_011515751.1:c.960_1206del
XM_011515752.1:c.960_1206del
XM_011515753.1:c.627_873del
XM_011515754.1:c.627_873del
NM_000492.4:c.870_1116del