Canonical Allele Identifier: CA327023

Gene: CFTR

Linked Data

• ClinVar Variation Id: 53635
• ClinVar RCV Id: RCV000577781
• dbSNP Id: rs121908781 ; rs397508485

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117610569dup , CM000669.2:g.117610569dup	GRCh38
NC_000007.13:g.117250623dup , CM000669.1:g.117250623dup	GRCh37
NC_000007.12:g.117037859dup	NCBI36
NG_016465.4:g.149786dup , LRG_663:g.149786dup

Transcript Alleles

HGVS	Amino-acid change
NM_000492.3:c.3039dup , LRG_663t1:c.3039dup	NP_000483.3:p.Tyr1014LeufsTer?
XM_011515751.1:c.3129dup	XP_011514053.1:p.Tyr1044LeufsTer?
XM_011515752.1:c.3129dup	XP_011514054.1:p.Tyr1044LeufsTer?
XM_011515753.1:c.2796dup	XP_011514055.1:p.Tyr933LeufsTer?
XM_011515754.1:c.2796dup	XP_011514056.1:p.Tyr933LeufsTer?
NM_000492.4:c.3039dup MANE Select	NP_000483.3:p.Tyr1014LeufsTer?
ENST00000003084.10:c.3039dup	ENSP00000003084.6:p.Tyr1014LeufsTer?
ENST00000426809.5:n.2949dup	ENSP00000389119.1:p.Tyr984LeufsTer?