Canonical Allele Identifier: CA327024
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 53636
ClinVar RCV Id: RCV000046765
dbSNP Id: rs121908781

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117610567del , CM000669.2:g.117610567del GRCh38
NC_000007.13:g.117250621del , CM000669.1:g.117250621del GRCh37
NC_000007.12:g.117037857del NCBI36
NG_016465.4:g.149784del , LRG_663:g.149784del

Transcript Alleles

HGVS Amino-acid change
NM_000492.3:c.3037del , LRG_663t1:c.3037del NP_000483.3:p.Tyr1014ThrfsTer9
XM_011515751.1:c.3127del XP_011514053.1:p.Tyr1044ThrfsTer9
XM_011515752.1:c.3127del XP_011514054.1:p.Tyr1044ThrfsTer9
XM_011515753.1:c.2794del XP_011514055.1:p.Tyr933ThrfsTer9
XM_011515754.1:c.2794del XP_011514056.1:p.Tyr933ThrfsTer9
NM_000492.4:c.3037del MANE Select NP_000483.3:p.Tyr1014ThrfsTer9
ENST00000003084.10:c.3037del ENSP00000003084.6:p.Tyr1014ThrfsTer9
ENST00000426809.5:n.2947del ENSP00000389119.1:p.Tyr984ThrfsTer9