Canonical Allele Identifier: CA327024

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53636
• ClinVar RCV Id: RCV000046765
• dbSNP Id: rs121908781
• MyVariant Identifiers: chr7:g.117250623del (hg19) ; chr7:g.117610569del (hg38)
• PubMed: PMID:10794365 ; PMID:11668613 ; PMID:23974870

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