Canonical Allele Identifier: CA2825001513
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 3076098
ClinVar RCV Id: RCV004018415
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479550A>C , CM000669.2:g.117479550A>C GRCh38
NC_000007.13:g.117119604A>C , CM000669.1:g.117119604A>C GRCh37
NC_000007.12:g.116906840A>C NCBI36
NG_016465.4:g.18767A>C , LRG_663:g.18767A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-335A>C ENSP00000417012.1:n.-335A>C
ENST00000673785.1:c.-406+13719A>C ENSP00000501235.1:n.-406+13719A>C
ENST00000446805.1:c.-335A>C ENSP00000417012.1:n.-335A>C
ENST00000546407.1:n.166+3742A>C
XM_011515751.1:c.143+205A>C XP_011514053.1:n.143+205A>C
XM_011515752.1:c.143+205A>C XP_011514054.1:n.143+205A>C
XM_011515753.1:c.-335A>C XP_011514055.1:n.-335A>C
XM_011515754.1:c.-663A>C XP_011514056.1:n.-663A>C
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