ClinGen Allele Registry
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Canonical Allele Identifier:
CA2684616318
Gene: CFTR
HGNC
NCBI
Linked Data
gnomAD v4:
7-117479339-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.117479339C>A , CM000669.2:g.117479339C>A
GRCh38
NC_000007.13:g.117119393C>A , CM000669.1:g.117119393C>A
GRCh37
NC_000007.12:g.116906629C>A
NCBI36
NG_016465.4:g.18556C>A , LRG_663:g.18556C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000446805.2:c.-430C>A
ENSP00000417012.1:n.-430C>A
ENST00000673785.1:c.-406+13508C>A
ENSP00000501235.1:n.-406+13508C>A
ENST00000446805.1:c.-430C>A
ENSP00000417012.1:n.-430C>A
ENST00000546407.1:n.166+3531C>A
XM_011515751.1:c.137C>A
XP_011514053.1:p.Ala46Glu
XM_011515752.1:c.137C>A
XP_011514054.1:p.Ala46Glu
XM_011515753.1:c.-430C>A
XP_011514055.1:n.-430C>A
XM_011515754.1:c.-758C>A
XP_011514056.1:n.-758C>A
Search 100 bp 5'
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